Joyce Teng, MD, PhD

All Publications

• Assessment of MTOR pathway activation in basal cell carcinoma as a new therapeutic approach Chang, A. S., Brown, R., Li, S., Betancourt, N., Teng, J. ELSEVIER SCIENCE INC. 2024: S133

  View details for Web of Science ID 001276879002147

• Stigmatization and Mental Health Impact of Chronic Pediatric Skin Disorders. JAMA dermatology Paller, A. S., Rangel, S. M., Chamlin, S. L., Hajek, A., Phan, S., Hogeling, M., Castelo-Soccio, L., Lara-Corrales, I., Arkin, L., Lawley, L. P., Funk, T., Castro Porto Silva Lopes, F., Antaya, R. J., Ramien, M. L., Vivar, K. L., Teng, J., Coughlin, C. C., Rehmus, W., Gupta, D., Bercovitch, L., Stein, S. L., Boull, C., Tom, W. L., Liang, M. G., Hunt, R., Luu, M., Holland, K. E., Schoch, J. J., Cella, D., Lai, J. S., Griffith, J. W. 2024

  Abstract

  Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic skin disease and association with mental health needs further study.To examine the extent of stigma, dependence on disease visibility and severity, and association with mental health and quality of life (QOL) in chronic pediatric skin disease.A cross-sectional, single-visit study was conducted at 32 pediatric dermatology centers in the US and Canada from November 14, 2018, to November 17, 2021. Participants included patients aged 8 to 17 years with chronic skin disease and 1 parent.Using the Patient-Reported Outcomes Measurement Instrumentation System (PROMIS) Stigma-Skin, the extent of stigma with child-, caregiver-, and physician-assessed disease visibility (primary outcome) and severity was compared, as well as reduced QOL (assessed by Skindex-Teen), depression, anxiety, and poor peer relationships (PROMIS child and proxy tools) (secondary outcomes).The study included 1671 children (57.9% female; mean [SD] age, 13.7 [2.7] years). A total of 56.4% participants had self-reported high disease visibility and 50.5% had moderate disease severity. Stigma scores significantly differed by level of physician-assessed and child/proxy-assessed disease visibility and severity. Among children with chronic skin disorders, predominantly acne, atopic dermatitis, alopecia areata, and vitiligo, only 27.0% had T scores less than 40 (minimal or no stigma) and 43.8% had at least moderate stigma (T score ≥45) compared with children with a range of chronic diseases. Stigma scores correlated strongly with reduced QOL (Spearman ρ = 0.73), depression (ρ = 0.61), anxiety (ρ = 0.54), and poor peer relationships (ρ = -0.49). Overall, 29.4% of parents were aware of bullying of their child, which was strongly associated with stigma (Cohen d = -0.79, with children who were not bullied experiencing lower levels of stigma). Girls reported more stigma than boys (Cohen d = 0.26). Children with hyperhidrosis and hidradenitis suppurativa were most likely to have increased depression and anxiety.The findings of this study suggest that physician assessment of disease severity and visibility is insufficient to evaluate the disease impact in the patient/caregiver. Identifying stigmatization, including bullying, and tracking improvement through medical and psychosocial interventions may be a key role for practitioners.

  View details for DOI 10.1001/jamadermatol.2024.0594

  View details for PubMedID 38656377

• Assessment of Mammalian Target of Rapamycin Pathway Activation in Basal Cell Carcinoma as a New Therapeutic Approach. The American Journal of dermatopathology Chang, A. L., Brown, R., Li, S., Betancourt, N., Teng, J. 2024

  Abstract

  Targeting the mammalian target of rapamycin (mTOR) pathway represents a potentially novel approach to treat basal cell carcinoma (BCC), but activation of this pathway has not been well described in human BCCs. The purpose of this study was to assess whether mTOR pathway activation occurs in BCCs (both sporadic and syndromic) and report a case of a patient with Gorlin syndrome (GS) whose clinically suspicious BCCs responded to mTOR inhibition through topical sirolimus treatment. After Stanford Institutional Review Board Approval, archived BCCs from patients with GS (n = 25), sporadic BCCs (n = 35), and control tissues were subjected to immunohistochemical analysis for the activation of mTOR pathway, and immunohistochemical staining intensity was evaluated by a dermatopathologist. BCCs (compared with normal skin) had elevated levels of eIF4EBP1 (Padjusted = 0.0336), which is downstream of mTOR. a serine/threonine kinase Phospho-(AKT), which interacts with mTOR, was also significantly elevated (perinuclear: Padjusted < 0.0001; cytoplasmic: Padjusted = 0.0021). When off-label topical 1% sirolimus was used on a pediatric patient with GS, we noted reduction of new BCC development and decreased size of existing neoplasms clinically suspicious for BCCs. This treatment was well tolerated after 2 years of continuous use, with no other treatments needed during this period. Topical sirolimus is a promising therapeutic candidate against both sporadic and GS-associated BCC. Multicenter, prospective studies are needed to understand the efficacy and safety of topical mTOR inhibitors in BCC treatment, and ascertain whether the immunohistochemical markers downstream of mTOR could have predictive value in identifying BCCs most likely to respond to topical mTOR inhibitors, such as sirolimus.

  View details for DOI 10.1097/DAD.0000000000002718

  View details for PubMedID 38648034

• A new tale of thalidomide repurposing. Nature cardiovascular research Teng, J. M., Siegel, D. H. 2022; 1 (6): 535-536

  View details for DOI 10.1038/s44161-022-00087-9

  View details for PubMedID 39195871

• Gorlin Syndrome: Assessing Genotype-Phenotype Correlations and Analysis of Early Clinical Characteristics as Risk Factors for Disease Severity. Journal of clinical oncology : official journal of the American Society of Clinical Oncology Betancourt, N. J., Qian, M. F., Pickford, J. R., Bailey-Healy, I., Tang, J. Y., Teng, J. M. 2022: JCO2102385

  Abstract

  PURPOSE: Gorlin syndrome (GS) is a rare genetic disorder characterized by lifetime risk of basal cell carcinomas (BCCs), skeletal anomalies (SAs), and other extracutaneous neoplasms. There is great variation in disease severity, and a genotype-phenotype correlation has not been well established. Here, we investigate whether patients' clinical characteristics predict disease severity to inform clinical decision making.METHODS: Data of 248 patients with GS were collected between 2014 and 2021 from three institutions. Multivariable regression analyses were performed to investigate whether clinical characteristics predicted disease burden. Genotype-phenotype correlations were investigated in 40 patients.RESULTS: Patients with SAs had a mean increase of 120 lifetime BCCs (95% CI, 27.1 to 213) relative to patients without SAs. Those with ≥ 2 SAs had 2.45 increased odds (95% CI, 1.01 to 5.91) of advanced or metastatic BCCs. Moreover, the presence of multiple SAs was associated with 5.00 increased odds of having a keratocystic odontogenic tumor (95% CI, 2.22 to 11.3) and 2.79 increased odds of an ovarian fibroma (95% CI, 1.05 to 7.40). Genotype-phenotype analyses showed that missense/in-frame mutations were more likely to be hereditary compared with severe deleterious mutation types (100% v 27%; P = .004). In addition, heat map visualization illustrated that those with more deleterious variants, like large deletions, trended toward increased burden of SAs and BCCs per year.CONCLUSION: GS patients with SAs may be at greater risk for developing more numerous and severe BCCs and other neoplastic growths including keratocystic odontogenic tumors and ovarian fibromas. Current clinical guidelines suggest yearly follow-up in individuals with GS. Since SAs are usually recognized at the time of diagnosis, our results suggest that more vigilant lifetime multidisciplinary surveillance should be considered for these patients starting in childhood.

  View details for DOI 10.1200/JCO.21.02385

  View details for PubMedID 35333541

• Development and Initial Validation of a Novel System to Assess Ichthyosis Severity. JAMA dermatology Sun, Q., Asch, S., Bayart, C., Bayliss, S. J., Benjamin, L., Bruckner, A., DiGiovanna, J. J., Fleckman, P., Funk, T., Lucky, A., Nelson, C. A., Newell, B., Polcari, I., Teng, J., Williams, M. L., Gan, G., Deng, Y., Paller, A. S., Choate, K. A. 2022

  Abstract

  A comprehensive, user-friendly system to assess global ichthyosis disease burden is imperative to improving the care of patients with ichthyosis, identifying appropriate participants for clinical trials, and quantifying treatment outcomes. To our knowledge, there is currently no validated scale to objectively and systematically measure ichthyosis severity across the entire body.To create and evaluate a comprehensive and user-friendly instrument to measure total body ichthyosis severity in adults and children.In this qualitative study, ichthyosis experts participated in the content development of the Ichthyosis Scoring System (ISS). The body was divided into 10 regions, and Likert scales (0-4) were created to quantify scale and erythema, with extensive descriptors and photographic standards. An 83-image teaching set was created from photographs of participants with ichthyosis. Two cohorts of dermatologists (11 total) independently scored all test photographs twice to evaluate interrater and intrarater reliabilities. Participants were enrolled worldwide from referral centers and patient advocacy groups. Participants of all ages, races, and ethnicities were included in the creation of ISS, and dermatologists with varying experience and areas of expertise participated as raters to evaluate the ISS. The study was conducted from 2019 to 2021, and the data were analyzed in 2021.Intraclass correlation coefficients determined overall reliabilities.Across both cohorts of 11 dermatologists in total, the intraclass correlation coefficients for total, scale and erythema scores were greater than 0.90 (95% CI, 0.77-0.97), greater than 0.91 (95% CI, 0.79-0.98), and greater than 0.88 (95% CI, 0.72-0.97), respectively. Most body sites exhibited moderate to good interrater reliabilities for scale and erythema. Intrarater reliabilities were good to excellent.The results of this qualitative study demonstrate reproducibility and suggest that the ISS is a reliable system to measure global ichthyosis severity in adults and children.

  View details for DOI 10.1001/jamadermatol.2021.5917

  View details for PubMedID 35171201

• Dermatologic toxicities of targeted antineoplastic agents and immune checkpoint inhibitor therapy in pediatric patients: A systematic review. Pediatric blood & cancer Liu, L. Y., Teng, J. M., Spunt, S. L., Strelo, J. L., Kwong, B. Y., Zaba, L. C. 2021: e29346

  Abstract

  Cutaneous adverse events (cAEs) from targeted antineoplastic agents and immune checkpoint inhibitors are common in children with cancer and may lead to dose reduction or cessation of critical oncologic treatment. Timely diagnosis and proper management of cAEs in pediatric oncology patients is essential to optimize ongoing cancer-directed therapy and improve quality of life. This systematic review of published studies summarizes dermatologic toxicities to targeted anticancer treatments and immune checkpoint inhibitors.

  View details for DOI 10.1002/pbc.29346

  View details for PubMedID 34569142

• Transcriptomic Repositioning Analysis Identifies mTOR Inhibitor as Potential Therapy for Epidermolysis Bullosa Simplex. The Journal of investigative dermatology Lee, G. H., Lekwuttikarn, R., Tafoya, E., Martin, M., Sarin, K. Y., Teng, J. M. 2021

  Abstract

  Expression-based systematic drug repositioning has been explored to predict novel treatments for a number of skin disorders. Here, we utilize this approach to identify, to our knowledge, previously unreported therapies for epidermolysis bullosa simplex (EBS). RNA sequencing analysis was performed on skin biopsies of acute blisters (<1 week) (n=9) and non-blistered epidermis (n=11) obtained from 11 EBS patients. Transcriptomic analysis of blistered epidermis in EBS patients revealed a set of 1276 genes dysregulated in EBS blisters. The IL-6, IL-8, and IL-10 pathways were upregulated in epidermis from EBS. Consistent with this, predicted upstream regulators included TNF-alpha, IL-1beta, IL2, IL-6, PI3K, and mTOR. The 1276 gene EBS blister signature was integrated with molecular signatures from cell lines treated with 2423 drugs using the ConnectivityMap CLUE platform. mTOR inhibitors and PI3K inhibitors most opposed the EBS signature. To determine if mTOR inhibitors could be used clinically in EBS, we conducted an independent pilot study of 2 patients with EBS treated with topical sirolimus for painful plantar keratoderma due to chronic blistering. Both individuals experienced marked clinical improvement and notable reduction of keratoderma. In summary, a computational drug repositioning analysis successfully identified, to our knowledge, previously unreported targets in the treatment of EBS.

  View details for DOI 10.1016/j.jid.2021.07.170

  View details for PubMedID 34536484

• Arteriovenous Malformations-Current Understanding of the Pathogenesis with Implications for Treatment. International journal of molecular sciences Schimmel, K., Ali, M. K., Tan, S. Y., Teng, J., Do, H. M., Steinberg, G. K., Stevenson, D. A., Spiekerkoetter, E. 2021; 22 (16)

  Abstract

  Arteriovenous malformations are a vascular anomaly typically present at birth, characterized by an abnormal connection between an artery and a vein (bypassing the capillaries). These high flow lesions can vary in size and location. Therapeutic approaches are limited, and AVMs can cause significant morbidity and mortality. Here, we describe our current understanding of the pathogenesis of arteriovenous malformations based on preclinical and clinical findings. We discuss past and present accomplishments and challenges in the field and identify research gaps that need to be filled for the successful development of therapeutic strategies in the future.

  View details for DOI 10.3390/ijms22169037

  View details for PubMedID 34445743

• Early intervention and prevention of allergic diseases. Allergy Brough, H. A., Lanser, B. J., Sindher, S. B., Teng, J. M., Leung, D. Y., Venter, C., Chan, S. M., Santos, A. F., Bahnson, H., Guttman-Yassky, E., Gupta, R. S., Lack, G., Ciaccio, C., Sampath, V., Nadeau, K. C., Nagler, C. R. 2021

  Abstract

  Food Allergy (FA) is now one of the most common chronic diseases of childhood often lasting throughout life and leading to significant worldwide healthcare burden. The precise mechanisms responsible for the development of this inflammatory condition are largely unknown; however, a multifactorial aetiology involving both environmental and genetic contributions is well accepted. A precise understanding of the pathogenesis of FA is an essential first step to developing comprehensive prevention strategies that could mitigate this epidemic. As it is frequently preceded by atopic dermatitis and can be prevented by early antigen introduction, the development of FA is likely facilitated by the improper initial presentation of antigen to the developing immune system. Primary oral exposure of antigens allowing for presentation via a well-developed mucosal immune system, rather than through a disrupted skin epidermal barrier, is essential to prevent FA. In this review, we present the data supporting the necessity of 1) an intact epidermal barrier to prevent epicutaneous antigen presentation, 2) the presence of specific commensal bacteria to maintain an intact mucosal immune system and 3) maternal/infant diet diversity, including vitamins and minerals, and appropriately timed allergenic food introduction to prevent FA.

  View details for DOI 10.1111/all.15006

  View details for PubMedID 34255344

• Genotype-structurotype-phenotype correlations in pachyonychia congenita patients. The Journal of investigative dermatology Wu, T. T., Eldirany, S. A., Bunick, C. G., Teng, J. M. 2021

  Abstract

  Pachyonychia congenita (PC) is a genetic disorder of keratin that presents with nail dystrophy, painful palmoplantar keratoderma, and other clinical manifestations. We investigated genotype-structurotype-phenotype correlations seen with mutations in keratin genes (KRT6A, KRT6B, KRT6C, KRT16, KRT17) and utilized protein structure modeling of high frequency mutations to examine the functional importance of keratin structural domains in PC pathogenesis. Participants of the International PC Research Registry underwent genetic testing and completed a standardized survey on their symptoms. Our results support prior reports associating oral leukokeratosis with KRT6A mutations, and cutaneous cysts, follicular hyperkeratosis, and natal teeth with KRT17 mutations. Painful keratoderma was prominent with KRT6A and KRT16 mutations. Nail involvement was most common in KRT6A and least common in KRT6C patients. Across keratin subtypes, patients with coil 2B mutations had greatest impairment in ambulation, and patients with coil 1A mutations reported more emotional issues. Molecular modeling demonstrated that hotspot missense mutations in PC largely disrupted hydrophobic interactions or surface charge. The former may destabilize keratin dimers/tetramers, while the latter likely interferes with higher-order keratin filament formation. Understanding pathologic alterations in keratin structure improves our knowledge of how PC genotype correlates with clinical phenotype, advancing insight into disease pathogenesis and therapeutic development.

  View details for DOI 10.1016/j.jid.2021.03.035

  View details for PubMedID 34116063

• Multiple Mucosal Papules in a Pediatric Patient: Challenge. The American Journal of dermatopathology Ransohoff, K., Teng, J., Rieger, K. E. 2021; 43 (4): e45

  View details for DOI 10.1097/DAD.0000000000001675

  View details for PubMedID 33743004

• Patient-Reported Outcomes (PROs) With Abrocitinib Treatment in Adolescent Patients With Moderate-to-Severe Atopic Dermatitis (AD): Results From the Phase 3 JADE TEEN Study McMichael, A., Cork, M., Teng, J., Rojo, R., Valdez, H., Zhang, F., Myers, D., Chan, G., DiBonaventura, M. MOSBY-ELSEVIER. 2021: AB156

  View details for Web of Science ID 000629158000501

• Consensus recommendations for the use of retinoids in ichthyosis and other disorders of cornification in children and adolescents. Pediatric dermatology Zaenglein, A. L., Levy, M. L., Stefanko, N. S., Benjamin, L. T., Bruckner, A. L., Choate, K., Craiglow, B. G., DiGiovanna, J. J., Eichenfield, L. F., Elias, P., Fleckman, P., Lawley, L. P., Lewis, R. A., Lucky, A. W., Mathes, E. F., Milstone, L. M., Paller, A. S., Patel, S. S., Siegel, D. H., Teng, J., Tanumihardjo, S. A., Thaxton, L., Williams, M. L., PeDRA Use of Retinoids in Ichthyosis Work Group 2020

  Abstract

  Topical and systemic retinoids have long been used in the treatment of ichthyoses and other disorders of cornification. Due to the need for long-term use of retinoids for these disorders, often beginning in childhood, numerous clinical concerns must be considered. Systemic retinoids have known side effects involving bone and eye. Additionally, potential psychiatric and cardiovascular effects need to be considered. Contraceptive concerns, as well as the additive cardiovascular and bone effects of systemic retinoid use with hormonal contraception must also be deliberated for patients of childbearing potential. The Pediatric Dermatology Research Alliance (PeDRA) Use of Retinoids in Ichthyosis Work Group was formed to address these issues and to establish best practices regarding the use of retinoids in ichthyoses based on available evidence and expert opinion.

  View details for DOI 10.1111/pde.14408

  View details for PubMedID 33169909

• Imatinib as a potentially effective therapeutic alternative in corticosteroid-resistant eosinophilic fasciitis. Pediatric dermatology Wu, T. T., Goodarzi, H., Wang, J., Novoa, R., Teng, J. M. 2020

  Abstract

  Eosinophilic fasciitis (EF) is a rare condition in children that is typically treated with systemic corticosteroids. We present the case of a 9-year-old boy with biopsy-proven EF, refractory to systemic corticosteroids and methotrexate. The tyrosine kinase inhibitor imatinib was added as adjuvant therapy, leading to improvement in joint function and skin laxity. Our case is the first to suggest the anti-fibrotic properties of imatinib may benefit EF patients.

  View details for DOI 10.1111/pde.14327

  View details for PubMedID 32970342

• Fixed Combination Calcipotriene and Betamethasone Dipropionate (Cal/BD) Foam for Beyond-Mild Psoriasis: A Possible Alternative to Systemic Medication JOURNAL OF DRUGS IN DERMATOLOGY Kircik, L., Gold, L., Teng, J., Moore, A., Cantrell, W., Alonso-Llamazares, J., Koo, J. 2020; 19 (8): 723–32

  Abstract

  Calcipotriene 0.005% plus betamethasone dipropionate 0.064% (Cal/BD) aerosol foam is a topical agent indicated for the treatment of plaque psoriasis. While topical treatments are typically reserved for milder disease, in clinical trials with Cal/BD foam, the vast majority of patients had beyond-mild psoriasis at baseline, and multiple studies (including subgroup analyses from randomized controlled trials and other small-scale studies) have demonstrated favorable outcomes with the use of Cal/BD foam in this population. The objective of this article is to review existing data on the efficacy, safety, and cost-effectiveness of Cal/BD foam used in patients with beyond-mild psoriasis, either alone as topical monotherapy or as adjunctive therapy. Practical recommendations for managing beyond-mild psoriasis with Cal/BD foam are also provided. J Drugs Dermatol. 2020;19(8): doi:10.36849/JDD.2020.5300.

  View details for DOI 10.36849/JDD.2020.5300

  View details for Web of Science ID 000563988900004

  View details for PubMedID 32845591

• Multidisciplinary Care of Epidermolysis Bullosa during the COVID-19 Pandemic - Consensus: Recommendations by an International Panel of Experts. Journal of the American Academy of Dermatology Murrell, D. F., Lucky, A. W., Salas-Alanis, J. C., Woodley, D. T., Palisson, F., Natsuga, K., Nikolic, M., Ramirez-Quizon, M., Paller, A. S., Lara-Corrales, I., Barzegar, M. A., Sprecher, E., Has, C., Laimer, M., Bruckner, A. L., Bilgic, A., Nanda, A., Purvis, D., Hovnanian, A., Murat-Susic, S., Bauer, J., Kern, J. S., Bodemer, C., Martin, L. K., Mellerio, J., Kowaleski, C., Robertson, S. J., Bruckner-Tuderman, L., Pope, E., Marinkovich, M. P., Tang, J. Y., Su, J., Uitto, J., Eichenfield, L. F., Teng, J., Aan Koh, M. J., Lee, S. E., Khuu, P., Rishel, H. I., Sommerlund, M., Wiss, K., Hsu, C., Chiu, T. W., Martinez, A. E. 2020

  View details for DOI 10.1016/j.jaad.2020.06.1023

  View details for PubMedID 32682031

• Natural history and management of basal cell nevus syndrome: Updates from the gorlin syndrome registry Eng, V., Saldanha, G., Li, S., Bailey-Healy, I., Teng, J., Tang, J. ELSEVIER SCIENCE INC. 2020: S50

  View details for Web of Science ID 000554564400341

• Trial in progress: VALO study evaluating PTX-022 in adults with moderate-to-severe pachyonychia congenita, a rare, chronically debilitating disease that makes walking difficult or impossible Teng, J., Shroot, B., Evans, H., Schwartz, J., Connor, J., Valentine, J., Hansen, C. ELSEVIER SCIENCE INC. 2020: S68

  View details for Web of Science ID 000554564400447

• Rationale and design for the Kallikrein Inhibitor in Netherton Syndrome (KINS) pivotal clinical trial Johnson, K. W., Hovnanian, A., Teng, J., Paller, A. S., Choate, K., Elias, P., Laura, Z., Nguyen, T., Smith, D., Hsu, A., Alani, L., Lai, C., Hsu, L. ELSEVIER SCIENCE INC. 2020: S79

  View details for Web of Science ID 000554564400510

• VASCULAR ANOMALIES IN PTEN DISORDERS Stevenson, D. A., Lekwuttikarn, R., Griggs, K., Teng, J. M. WILEY. 2020: 905–6

  View details for Web of Science ID 000518641400106

• Safety and efficacy of fixed-dose combination calcipotriol (50mug/g) and betamethasone dipropionate (0.5mg/g) cutaneous foam in adolescent patients (aged 12 to <17years) with plaque psoriasis: results of a phase II, open-label trial. Journal of the European Academy of Dermatology and Venereology : JEADV Seyger, M., Abramovits, W., Liljedahl, M., Hoejen, M. N., Teng, J. 2020

  Abstract

  BACKGROUND: Fixed-dose combination of calcipotriol (50mug/g; Cal) and betamethasone dipropionate (0.5mg/g; BD) foam is approved for plaque psoriasis treatment in adults, with a paucity of data supporting use in adolescents.OBJECTIVES: To evaluate safety of 4weeks' treatment with Cal/BD foam in adolescent patients with psoriasis, and additional safety outcomes in patients with more severe disease (HPA-axis cohort). Primary objectives included treatment-emergent adverse events (TEAEs) and systemic calcium levels in the overall population, and HPA-axis function, change in calcium excretion and the calcium:creatinine ratio in the HPA-axis cohort. Secondary objectives included exploratory efficacy endpoints [treatment success: change in Psoriasis Area and Severity Index (PASI)]. Systemic exposure to Cal/BD was also assessed.METHODS: A phase II, open-label, study (NCT02387853) in patients (12 to <17years) with at least mild psoriasis, to evaluate Cal/BD foam applied once daily for ≤4weeks.RESULTS: In patients assigned to treatment (n=106), 32 TEAEs occurred in 22 patients (20.8%). All but two TEAEs were mild; none led to study withdrawal or death. Changes (0-4weeks) in albumin-corrected serum calcium (overall population) and urinary calcium excretion (HPA-axis cohort) were small, transient and not considered clinically relevant. In the HPA-axis cohort, no change in urinary calcium:creatinine ratio was observed and responses to adrenocorticotropic-hormone (ACTH) challenge did not suggest disruption of the HPA-axis. Prespecified treatment success on the body and scalp was achieved by 71.8% and 75.7% of the overall population, respectively. Mean PASI decreased by 82.0% vs. baseline at Week 4. Systemic exposure to Cal/BD was minimal.CONCLUSIONS: Cal/BD foam was well tolerated in adolescent patients with body/scalp psoriasis. There was no evidence for dysregulation of the HPA-axis nor calcium homoeostasis in patients with more severe disease. Exploratory efficacy data in the overall population were encouraging.

  View details for DOI 10.1111/jdv.16233

  View details for PubMedID 32074665

• Cells from discarded dressings differentiate chronic from acute wounds in patients with Epidermolysis Bullosa. Scientific reports Fuentes, I. n., Guttmann-Gruber, C. n., Tockner, B. n., Diem, A. n., Klausegger, A. n., Cofré-Araneda, G. n., Figuera, O. n., Hidalgo, Y. n., Morandé, P. n., Palisson, F. n., Rebolledo-Jaramillo, B. n., Yubero, M. J., Cho, R. J., Rishel, H. I., Marinkovich, M. P., Teng, J. M., Webster, T. G., Prisco, M. n., Eraso, L. H., Piñon Hofbauer, J. n., South, A. P. 2020; 10 (1): 15064

  Abstract

  Impaired wound healing complicates a wide range of diseases and represents a major cost to healthcare systems. Here we describe the use of discarded wound dressings as a novel, cost effective, accessible, and non-invasive method of isolating viable human cells present at the site of skin wounds. By analyzing 133 discarded wound dressings from 51 patients with the inherited skin-blistering disease epidermolysis bullosa (EB), we show that large numbers of cells, often in excess of 100 million per day, continually infiltrate wound dressings. We show, that the method is able to differentiate chronic from acute wounds, identifying significant increases in granulocytes in chronic wounds, and we show that patients with the junctional form of EB have significantly more cells infiltrating their wounds compared with patients with recessive dystrophic EB. Finally, we identify subsets of granulocytes and T lymphocytes present in all wounds paving the way for single cell profiling of innate and adaptive immune cells with relevance to wound pathologies. In summary, our study delineates findings in EB that have potential relevance for all chronic wounds, and presents a method of cellular isolation that has wide reaching clinical application.

  View details for DOI 10.1038/s41598-020-71794-1

  View details for PubMedID 32934247

• Enstilar (Calcipotriene and Betamethasone Dipropionate) Foam for Plaque Psoriasis in Adolescents Aged 12-17 Years. Skinmed Abramovits, W., Teng, J. M., Vincent, K. D., Gupta, A. K. 2020; 18 (4): 229–33

  View details for PubMedID 33032687

• Multidisciplinary Management of a Large Lymphatic Malformation with Recurrent Pleural Effusion, Response to Sildenafil and Sirolimus Lee, I., Teng, J., Jeng, M., Morales, E. E. AMER THORACIC SOC. 2020

  View details for Web of Science ID 000556393501337

• DIACEREIN 1% OINTMENT FOR THE TREATMENT OF EPIDERMOLYSIS BULLOSA SIMPLEX: RESULTS OF A PHASE 2 STUDY Teng, J., Paller, A. S., Bruckner, A. L., Murrell, D. F., Mellerio, J. E., Bodemer, C., Martinez, A. E., Lugo-Somolinos, A., Sprecher, E., Bauer, J. W., Spellman, M. C. ACTA DERMATO-VENEREOLOGICA. 2020: 46–47

  View details for Web of Science ID 000568327600127

• VASCULAR ANOMALIES, THROMBOEMBOLISM, AND ORAL CONTRACEPTIVES: A RETROSPECTIVE STUDY Wang, J., Teng, J. BMJ PUBLISHING GROUP. 2020: A99

  View details for DOI 10.1136/jim-2019-WMRC.228

  View details for Web of Science ID 000507513300229

• Laser-Assisted Delivery of Topical Rapamycin: mTOR Inhibition for Birt-Hogg-Dube Syndrome DERMATOLOGIC SURGERY Kim, D., Wysong, A., Teng, J. M., Rahman, Z. 2019; 45 (12): 1713–15

  View details for DOI 10.1097/DSS.0000000000001778

  View details for Web of Science ID 000509692200046

• Alterations of the MEK/ERK, BMP, and Wnt/beta-catenin pathways detected in the blood of individuals with lymphatic malformations PLOS ONE Kim, T., Tafoya, E., Chelliah, M. P., Lekwuttikarn, R., Li, J., Sarin, K. Y., Teng, J. 2019; 14 (4)

  View details for DOI 10.1371/journal.pone.0213872

  View details for Web of Science ID 000463314500013

• Genetics of vascular malformation and therapeutic implications. Current opinion in pediatrics Zúñiga-Castillo, M. n., Teng, C. L., Teng, J. M. 2019

  Abstract

  Vascular malformations (VaMs) are a consequence of disrupted morphogenesis that may involve arterial, capillary, venous, or lymphatic endothelium alone or in a combination. VaMs can have serious health impacts, leading to life-threatening conditions sometimes. Genetic mutations affecting proliferation, migration, adhesion, differentiation, and survival of endothelial cells, as well as integrity of extracellular matrix are believed to be the pathogenesis of these disorders. Here, we present an updated review of genetic mutations and potential therapeutic targets for VaMs.Increased number of genetic mutations have been discovered in vascular anomalies via targeted deep sequencing. When a genetic defect is identified, it often presents in only a small percentage of cells within the malformation. In addition, mutations within the same gene may result in different clinical phenotypes. Management of VaMs can be challenging depending on the severity and functional impairment associated. There are no standard treatment algorithms available to date for VaMs, therefore the disorder has significant unmet clinical needs. Currently, the focus of therapeutic development is to target constitutively activated intracellular signaling pathways resulted from genetic mutations.Knowledge about the genetic mutations and altered signaling pathways related to VaMs have improved our understanding about the pathogenesis of vascular anomalies and provided insights to the development of new targeted therapies.

  View details for DOI 10.1097/MOP.0000000000000794

  View details for PubMedID 31246627

• Management of Complex Arteriovenous Malformations Using a Novel Combination Therapeutic Algorithm. JAMA dermatology Chelliah, M. P., Do, H. M., Zinn, Z., Patel, V., Jeng, M., Khosla, R. K., Truong, M., Marqueling, A., Teng, J. M. 2018; 154 (11): 1316–19

  Abstract

  Importance: Current therapeutic options for patients with extracranial head and neck arteriovenous malformations are limited. Surgical intervention, such as sclerotherapy or resection, often result in rapid recurrence and progression of disease.Objective: To assess the efficacy and tolerability of sirolimus as an adjuvant therapy for endovascular embolization in the management of complicated extracranial head and neck arteriovenous malformations.Design, Setting, and Participants: This case series examined 6 patients with extracranial head and neck arteriovenous malformations treated from January 1, 2013, to December 31, 2017, at a multidisciplinary vascular anomalies clinic within Stanford Hospital and Clinics.Intervention: Initiation of sirolimus at least 1 month prior to endovascular embolization, targeting a trough level of 10 to 15 ng/mL throughout the course of the endovascular embolization series and continued for at least 1 month after the series.Main Outcomes and Measures: Clinical manifestations; disease progression and overall response to treatment were assessed via clinical evaluation and radiographic imaging.Results: All 6 patients (4 male and 2 female patients; mean age, 24.5 years [range, 9-44 years]) responded favorably to the combination of sirolimus therapy followed by endovascular embolization, and 4 patients exhibited a near-complete response. The median duration of follow-up was 19 months (range, 6-40 months). One patient discontinued sirolimus soon after embolization and experienced regrowth of the arteriovenous malformation after 1 year. Sirolimus was resumed, which has stabilized his disease for more than 2 years. Mild adverse effects were noted in 4 patients. The combination therapy was well tolerated in all patients. One patient developed skin ulceration after embolization and required surgical debridement. Another patient developed pulmonary microthrombi after embolization with cyanoacrylate glue that resolved with a brief course of anti-inflammatory therapy.Conclusions and Relevance: Although further prospective trials are needed, this report suggests the benefit of a mammalian target of rapamycin inhibitor as an adjuvant therapy for surgical embolization of complex, extracranial head and neck arteriovenous malformations. The optimal dosing and therapeutic duration of sirolimus treatment before and after embolization remain to be determined.

  View details for PubMedID 30326494

• Management of Complex Arteriovenous Malformations Using a Novel Combination Therapeutic Algorithm JAMA DERMATOLOGY Chelliah, M., Do, H. M., Zinn, Z., Patel, V., Jeng, M., Khosla, R. K., Truong, M., Marqueling, A., Teng, J. C. 2018; 154 (11): 1316–19

  View details for DOI 10.1001/jamadermatol.2018.3039

  View details for Web of Science ID 000450361300015

• Discovery of novel somatic mutations in patients with lymphatic malformations Pyles, M. N., Tu, J. H., Donahue, W., Toydemir, P., Sarin, K., Rieger, K., Teng, J. ELSEVIER SCIENCE INC. 2017: S91

  View details for DOI 10.1016/j.jid.2017.02.550

  View details for Web of Science ID 000406862400524

• Analysis of sirolimus treatment response in lymphatic malformations with and without PIK3CA mutation Pyles, M. N., Tu, J. H., Donahue, W., Tafoya, E., Zinn, Z., Marqueling, A., Jeng, M. R., Teng, J. ELSEVIER SCIENCE INC. 2017: S55

  View details for DOI 10.1016/j.jid.2017.02.341

  View details for Web of Science ID 000406862400324

• Sirolimus for the treatment of venolymphatic and lymphatic malformations in children: A volumetric analysis Tu, J. H., Cohn, H. I., Do, H. M., Yeom, K., Marqueling, A., Sofilos, M., Jeng, M., Teng, J. ELSEVIER SCIENCE INC. 2016: S45

  View details for DOI 10.1016/j.jid.2016.02.282

  View details for Web of Science ID 000380028800253

• Lymphatic malformations in children and response to multiple treatment modalities Tu, J. H., Cohn, H. I., Marqueling, A., Teng, J. ELSEVIER SCIENCE INC. 2016: S27

  View details for DOI 10.1016/j.jid.2016.02.178

  View details for Web of Science ID 000380028800151

• A complex course: Referral paths to pediatric dermatology Fogel, A., Teng, J. MOSBY-ELSEVIER. 2015: AB196

  View details for Web of Science ID 000360942901500

• Whole exome sequencing powered genetic discovery in mosaic disease Levinsohn, J. L., Teng, J. M., Craiglow, B., Burrow, T., McNiff, J., Lucky, A., Antaya, R., Choate, K. NATURE PUBLISHING GROUP. 2014: S82

  View details for Web of Science ID 000334560400472

• Enhanced skin regeneration and therapeutic delivery using novel diamond-augmented zinc oxide. Journal of cosmetic dermatology Zhang, X. D., Teng, C., Bai, X., Teng, J., Chilukuri, S., Lewis, A., Gold, M. H. 2024

  Abstract

  Recent advancements in dermatological therapeutics have highlighted the need for treatments that enhance skin regeneration and healing. Diamond-Augmented Zinc Oxide (ND-ZnO) technology combines zinc oxide with diamond particles in a unique core-shell structure, offering a multifaceted approach to overall skin health.This study evaluates the efficacy of ND-ZnO in promoting human dermal fibroblast migration and growth, enhancing total collagen synthesis, and improving transdermal delivery of active ingredients as a daily comprehensive skin regeneration topical therapy.In vitro assays assessed wound healing, collagen production, and skin absorption. Human Dermal Fibroblasts (HDFs) were used in scratch wound assays. Collagen synthesis was quantified using enzyme-linked immunosorbent assays (ELISA). Permeation tests were performed on reconstructed human epidermal tissues to evaluate niacinamide absorption. Clinical case studies validated ND-ZnO efficacy in post-CO₂ laser treatments and Actinic Keratosis removal recovery.ND-ZnO increased HDF migration by 198% compared to controls. Collagen synthesis assays showed a 71.3% restoration of collagen production in aged HDFs. Skin permeation studies revealed a 203% increase in niacinamide skin absorption with ND-ZnO. Clinical case studies demonstrated faster and more effective healing post-ablative CO₂ laser and significant improvements in Actinic Keratosis recovery.ND-ZnO technology enhances wound healing, collagen synthesis, and active ingredient delivery, offering substantial benefits for daily skin regeneration and other dermatological applications. This innovative approach holds promise for advancing dermatological therapeutics, providing comprehensive skin care solutions that address both protective and regenerative needs.

  View details for DOI 10.1111/jocd.16508

  View details for PubMedID 39083431

• Pachyonychia Congenita: A Research Agenda Leading to New Therapeutic Approaches. The Journal of investigative dermatology O'Toole, E. A., Kelsell, D. P., Caterina, M. J., de Brito, M., Hansen, D., Hickerson, R. P., Hovnanian, A., Kaspar, R., Lane, E. B., Paller, A. S., Schwartz, J., Shroot, B., Teng, J., Titeux, M., Coulombe, P. A., Sprecher, E. 2023

  Abstract

  Pachyonychia congenita (PC) is a dominantly inherited genetic disorder of cornification. PC stands out among other genodermatoses because despite its rarity, it has been the focus of a very large number of pioneering translational research efforts over the past 2 decades, mostly driven by a patient support organization, the Pachyonychia Congenita Project. These efforts have laid the ground for innovative strategies that may broadly impact approaches to the management of other inherited cutaneous and noncutaneous diseases. This article outlines current avenues of research in PC, expected outcomes, and potential hurdles.

  View details for DOI 10.1016/j.jid.2023.10.030

  View details for PubMedID 38099888

• Phase 2 study of the safety and efficacy of QTORIN rapamycin in the treatment of microcystic lymphatic malformations Teng, J. M., Martini, J., Treat, J., Connor, J., Small, A., Funk, T., Waner, M. ELSEVIER SCIENCE INC. 2023: B15

  View details for Web of Science ID 001056572400071

• TOPICAL SIROLIMUS 0.2% GEL FOR FACIAL ANGIOFIBROMA ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX IN THE UNITED STATES: A COST-EFFECTIVENESS ANALYSIS Dutta, S., Teng, J., Bhattacharyya, S., John, D., Boggarapu, S., Beresford, E. ELSEVIER SCIENCE INC. 2023: S155-S156

  View details for Web of Science ID 001031473301061

• TREATMENT OPTIONS FOR MANAGEMENT OF FACIAL ANGIOFIBROMA ASSOCIATED WITH TUBEROUS SCLEROSIS COMPLEX: A SYSTEMATIC REVIEW OF EVIDENCE OF CLINICAL EFFECTIVENESS AND COST-EFFECTIVENESS John, D., Schachner, L. A., Teng, J., Aman, M. S., Choudhury, P. S., Boggarapu, S., Beresford, E. ELSEVIER SCIENCE INC. 2023: S56

  View details for Web of Science ID 001031473300250

• Topical Isotretinoin (TMB-001) Treatment for 12 Weeks Did Not Result in Clinically Relevant Laboratory Abnormalities in Participants with Congenital Ichthyosis in the Phase 2b CONTROL Study. Dermatology and therapy Marathe, K., Teng, J. M., Guenthner, S., Bunick, C. G., Kempers, S., Eads, K., Castelo-Soccio, L., Mendelsohn, A. M., Raiz, J., Murrell, D. F. 2023

  Abstract

  Treatment with oral retinoids can be effective in patients with congenital ichthyosis (CI) but may be associated with clinically significant laboratory changes. In this Phase 2b CONTROL study analysis, we characterize the effects of TMB-001, a novel topical isotretinoin formulation, on laboratory values in participants with X-linked recessive (XLRI) and autosomal recessive lamellar (ARCI-LI) ichthyosis at 12 weeks.A randomized, double-blind, vehicle-controlled, Phase 2b study was conducted with participants ≥ 9 years of age with confirmed XLRI and ARCI-LI. Participants were randomized 1:1:1 and stratified by CI subtype to receive TMB-001 0.05%:TMB-001 0.1%:vehicle twice daily for 12 weeks. Laboratory analyses were performed at screening and Week 12.Among 33 enrolled participants (TMB-001 0.05% n = 11, TMB-001 0.1% n = 10, and vehicle n = 12), 52% had ARCI-LI and 48% had XLRI. At 12 weeks, there were single reports of anemia, neutropenia, leukopenia, lymphocytosis, and leukocytosis after vehicle treatment; neutropenia was reported in one participant receiving TMB-001 0.1%. There were single reports of abnormal biochemistry values-liver enzymes, creatinine, urea nitrogen, hyperkalemia, and hyperproteinemia-across treatment cohorts. Non-fasting hyperglycemia was observed in three participants receiving TMB-001 0.1% and one participant receiving vehicle. Urinalysis abnormalities reported in > 1 participant included urobilinogen (TMB-001 0.1% n = 2, vehicle n = 2), protein (TMB-001 0.1% n = 3, vehicle n = 2), and leukocyte esterase (TMB-001 0.1% n = 2). Laboratory parameter changes were asymptomatic and did not require study discontinuation or drug withdrawal.There were no clinically significant laboratory changes in participants receiving TMB-001 isotretinoin ointment through 12 weeks of treatment, which differs from reported results for systemic isotretinoin.NCT04154293.

  View details for DOI 10.1007/s13555-023-00923-1

  View details for PubMedID 37170057

• Interim results of a phase I/II, closed label, randomized pilot study for the safety and efficacy of TolaSure gel, 5% w/w targeting aggregated mutant keratin in severe epidermolysis bullosa simplex (TAMES) Johnson, A. N., McGuire, K., McCormick, A., Rieger, K. E., Broadwater, L., Jain, S., Perrone, L., Teng, J. M., Tang, J. Y., Chiou, A. S. ELSEVIER SCIENCE INC. 2023: S102

  View details for Web of Science ID 001037960300593

• Molecular profiling identification of infantile myofibromatosis with complete histopathologic regression Yan, D., Liu, L., Sheahon, K., Teng, J. M., Rieger, K. E., Brown, R. A. ELSEVIER SCIENCE INC. 2023: S82

  View details for Web of Science ID 001037960300477

• Assessing the effects of systemic therapy for vascular malformations using RNAseq Teng, J. M., Winge, M., Qian, M. F. ELSEVIER SCIENCE INC. 2023: S108

  View details for Web of Science ID 001037960300630

• Characteristics and outcomes for participants with congenital ichthyosis who responded to treatment with the topical isotretinoin formulation TMB-001: Results from the Phase 2b CONTROL study. Clinical and experimental dermatology Bunick, C. G., Teng, J. M., Guenthner, S., Marathe, K., Kempers, S., Eads, K., Castelo-Soccio, L., Mendelsohn, A. M., Raiz, J., Murrell, D. F. 2023

  Abstract

  Emollients and keratolytics are frequently used to manage symptoms of congenital ichthyosis (CI). Systemic retinoid treatment is complicated by teratogenicity and dose-limiting adverse effects.This analysis from the randomised Phase 2b CONTROL study investigated the characteristics of participants who responded to treatment with TMB-001, a novel topical isotretinoin ointment formulation.Participants ≥9 years with genetically confirmed CI and ≥2 (out of 4) Visual Index for Ichthyosis Severity (VIIS) assessment areas with ≥3 scaling score were randomised 1:1:1 to TMB-001 0.05%:TMB-001 0.1%:vehicle twice daily for 12 weeks. Efficacy end points included the proportion of participants with ≥50% reduction vs baseline in VIIS-scaling (VIIS-50) and ≥2-grade reduction in Investigator Global Assessment (IGA)-scaling score vs baseline. Changes in body surface area (BSA) involvement, Dermatology Life Quality Index (DLQI) scores, and Itch-Numeric Rating Scale (I-NRS) scores were assessed.Of the 33 participants (TMB-001 0.05% [n = 11], 0.1% [n = 10], and vehicle [n = 12]), median age was 29 years, and most were male (64%) and White (79%). Baseline demographics were generally similar among participants who did or did not achieve TMB-001 treatment success. Participants who had lower mean BSA involvement and higher DLQI and I-NRS scores at baseline were more likely to achieve VIIS-50. Similarly, higher baseline DLQI and I-NRS scores were associated with IGA response; BSA involvement was similar for IGA responders vs nonresponders.Higher DLQI and I-NRS scores at baseline were associated with participants achieving treatment success by VIIS-50 and IGA response. Lower BSA involvement was associated with VIIS-50 success.

  View details for DOI 10.1093/ced/llad105

  View details for PubMedID 36928932

• Phase 2B randomised CONTROL study demonstrates a novel topical isotretinoin formulation, TMB-001, is safe and effective in participants with either recessive X-linked or autosomal recessive lamellar congenital ichthyosis. Clinical and experimental dermatology Murrell, D. F., Teng, J. M., Guenthner, S., Marathe, K., Kempers, S., Eads, K., Castelo-Soccio, L., Mendelsohn, A. M., Raiz, J., Bunick, C. G. 2023

  Abstract

  In 2 severe congenital ichthyosis (CI) subtypes, autosomal recessive lamellar ichthyosis (ARCI-LI) and X-linked recessive ichthyosis (XLRI), cutaneous manifestations include widespread scaling. Approved topical treatment options are limited to emollients and keratolytics.This analysis from the randomised Phase 2b CONTROL study assessed whether the efficacy and safety of TMB-001, a novel topical isotretinoin ointment formulation, differed between ARCI-LI and XLRI subtypes.Participants ≥9 years with genetically confirmed XLRI/ARCI-LI and ≥2 (out of 4) Visual Index for Ichthyosis Severity (VIIS) assessment areas with ≥3 scaling score were randomised 1:1:1 to TMB-001 0.05%:TMB-001 0.1%:vehicle twice daily for 12 weeks. Proportion of participants with ≥50% reduction vs baseline in VIIS scaling (VIIS-50; primary endpoint) and ≥2-grade reduction in Investigator Global Assessment (IGA)-scaling score vs baseline (key secondary endpoint) were evaluated. Adverse events (AEs) were monitored.Among enrolled participants (TMB-001 0.05% [n = 11], 0.1% [n = 10], and vehicle [n = 12]), 52% had ARCI-LI and 48% XLRI subtypes. Median age was 29 and 32 years for participants with ARCI-LI and XLRI, respectively. Overall, 33%/50%/17% of participants with ARCI-LI and 100%/33%/75% of participants with XLRI achieved VIIS-50, and improvement of ≥2-grade IGA score was observed in 33%/50%/0% of participants with ARCI-LI and 83%/33%/25% of participants with XLRI who received TMB-001 0.05%/TMB-001 0.1%/vehicle, respectively (nominal P = 0.026 for 0.05% vs vehicle; intent-to-treat population). Most AEs were application site reactions.Regardless of CI subtype, TMB-001 demonstrated greater proportions of participants achieving VIIS-50 and ≥2-grade IGA improvement vs vehicle.

  View details for DOI 10.1093/ced/llad033

  View details for PubMedID 36794376

• Mimickers of Classical Urticaria: Cryopyrin-Associated Autoinflammatory Syndrome Presenting as Isolated Urticaria in an Infant. The journal of allergy and clinical immunology. In practice Solomon, B. D., Skaljic, M., Liu, L. Y., Yan, D., Sheahon, K. M., Broderick, L., Hoffman, H. M., Beres, S. J., Brown, R. A., Teng, J. M., Gernez, Y. 2023

  View details for DOI 10.1016/j.jaip.2022.12.037

  View details for PubMedID 36720659

• Ichthyosis, cataracts, and motor delay in an infant: A case of Chanarin-Dorfman syndrome. Pediatric dermatology Luu, Y., Pithadia, D. J., Teng, J., Khuu, P. 2023

  Abstract

  Chanarin-Dorfman syndrome (CDS) is a rare, autosomal recessive disorder of impaired triacylglycerol catabolism leading to cytoplasmic deposition of triglycerides in various cell types. We describe the case of an 8-month-old boy with cataracts, strabismus, motor delays, and an ichthyosiform rash since birth. Genetic testing revealed a pathogenic variant of the ABHD5 gene, suggestive of CDS, and further workup demonstrated hepatic steatosis and myopathy. His ichthyosis improved with initiation of a diet low in very long-chain fatty acids and medium-chain fatty acid supplementation.

  View details for DOI 10.1111/pde.15258

  View details for PubMedID 36709747

• Pediatric Allergic Contact Dermatitis Registry Patch Testing Results from 2016-2022: A Retrospective Study of Age-Related Differences. Journal of the American Academy of Dermatology Young, K., Collis, R. W., Sheinbein, D., Shope, C., Suresh, T., Tam, I., Snyder, A., Cotton, C., Hunt, R., Goldenberg, A., Goldminz, A., Lugo-Somolinos, A., Grisham, E., Martin, K. L., Sandhu, M., Eichenfield, D. Z., Sprague, J., Kleinman, E. P., Sum, K., Chen, J. K., Teng, J., Aquino, M. R., Plante, J., Franca, K., Onate, A., Udrizar, P., Liszewski, W., Yu, J. 2023

  View details for DOI 10.1016/j.jaad.2023.01.016

  View details for PubMedID 36682723

• Assessment of Hormonal Contraceptive Utilization and Associated Odds of Hypercoagulopathy in Patients with Venous Malformations Using a National Claims Database. Clinical drug investigation Wang, J., Qian, M. F., Jeng, M. R., Teng, J. M. 2023

  Abstract

  BACKGROUND: Vascular anomalies that exhibit a slow velocity of blood flow, specifically venous malformations (VM), are associated with hypercoagulability. There is limited literature on the utilization of hormonal contraceptives (HCs) and the development of clotting events in female individuals diagnosed with VM.OBJECTIVE: We aimed to characterize HC utilization and associated odds of hypercoagulopathy in patients with VM of child-bearing age.METHODS: Using a national administrative claims database, we identified female patients with VM aged 15-49 years and a control population, matched for age and length of insurance enrollment, from 2016 to 2021. Multivariable logistic regression was used to estimate the odds of hypercoagulation events associated with HC use.RESULTS: Two hundred and sixty-seven (47.2%) patients with VM and 1284 (45.4%) control patients utilized HCs during the study period. Oral contraceptives were the most common HC for patients with and without VM (73.8% and 76.9% of those taking HCs, respectively), and estrogen-containing combination HCs (70.4% in patients with VM and 75.9% in controls) were more prevalent than progestin-only HCs in both populations. Despite a heightened baseline odds of hypercoagulopathy in patients with VM relative to patients without VM (odds ratio = 12.54; 95% confidence interval 7.73-20.3), HC use was not associated with an increased odds of hypercoagulation in the VM subpopulation (odds ratio = 0.82; 95% confidence interval 0.46-1.46). In contrast, tobacco use (odds ratio = 2.12; 95% confidence interval 1.09-4.12) and a history of coagulopathy (odds ratio = 3.92; 95% confidence interval 1.48-10.36) were predictive of thromboembolic events in the VM cohort.CONCLUSIONS: These findings suggest that patients with VM may safely use HCs with careful consideration of other risk factors for thromboses.

  View details for DOI 10.1007/s40261-022-01228-5

  View details for PubMedID 36626046

• Table II. Weighted odds of insurance coverage and Medicaid coverage within insured sample based on engagement in sun-protective behaviors, adjusted for age, gender, and race JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Teng, J. C., Bunick, C. G., Guenthner, S., Murrell, D. F., Marathe, K., Kempers, S., Eads, K., Mendelsohn, A. M., Raiz, J., Tavakkol, A., Castelo-Soccio, L. 2022; 87 (6): 1455-1458

  View details for Web of Science ID 000927902100030

• Retrospective Review of Pediatric Patch Testing Results in Skin of Color. Journal of the American Academy of Dermatology Young, K., Collis, R. W., Sheinbein, D., Shope, C., Suresh, T., Tam, I., Snyder, A., Cotton, C., Hunt, R., Goldenberg, A., Goldminz, A., Lugo-Somolinos, A., Grisham, E., Martin, K. L., Sandhu, M., Eichenfield, D., Sprague, J., Kleinman, E., Sum, K., Chen, J. K., Teng, J., Aquino, M. R., Plante, J., Franca, K., Onate, A., Udrizar, P., Liszewski, W., Yu, J. 2022

  View details for DOI 10.1016/j.jaad.2022.11.031

  View details for PubMedID 36427663

• Evidence-Based Clinical Practice Guidelines for Laser-Assisted Drug Delivery. JAMA dermatology Labadie, J. G., Ibrahim, S. A., Worley, B., Kang, B. Y., Rakita, U., Rigali, S., Arndt, K. A., Bernstein, E., Brauer, J. A., Chandra, S., Didwania, A., DiGiorgio, C., Donelan, M., Dover, J. S., Galadari, H., Geronemus, R. G., Goldman, M. P., Haedersdal, M., Hruza, G., Ibrahimi, O. A., Kauvar, A., Kelly, K. M., Krakowski, A. C., Miest, R., Orringer, J. S., Ozog, D. M., Ross, E. V., Shumaker, P. R., Sobanko, J. F., Suozzi, K., Taylor, M. B., Teng, J. M., Uebelhoer, N. S., Waibel, J., Wanner, M., Ratchev, I., Christensen, R. E., Poon, E., Miller, C. H., Alam, M. 2022

  Abstract

  Importance: Laser-assisted drug delivery (LADD) is used for various medical and cosmetic applications. However, there is insufficient evidence-based guidance to assist clinicians performing LADD.Objective: To develop recommendations for the safe and effective use of LADD.Evidence Review: A systematic literature review of Cochrane Central Register of Controlled Trials, Embase, and MEDLINE was conducted in December 2019 to identify publications reporting research on LADD. A multidisciplinary panel was convened to draft recommendations informed by the systematic review; they were refined through 2 rounds of Delphi survey, 2 consensus meetings, and iterative review by all panelists until unanimous consensus was achieved.Findings: Of the 48 published studies of ablative fractional LADD that met inclusion criteria, 4 were cosmetic studies; 21, oncologic; and 23, medical (not cosmetic/oncologic), and 6 publications of nonablative fractional LADD were included at the request of the expert panel, producing a total of 54 studies. Thirty-four studies (63.0%) were deemed to have low risk of bias, 17 studies (31.5%) had moderate risk, and 3 (5.5%) had serious risk. The key findings that informed the guidelines developed by the expert panel were as follows: LADD is safe in adults and adolescents (≥12 years) with all Fitzpatrick skin types and in patients with immunosuppression; it is an effective treatment for actinic keratosis, cutaneous squamous cell carcinoma in situ, actinic cheilitis, hypertrophic scars, and keloids; it is useful for epidermal and dermal analgesia; drug delivery may be increased through the application of heat, pressure, or occlusion, or by using an aqueous drug solution; laser settings should be selected to ensure that channel diameter is greater than the delivered molecule; antibiotic prophylaxis is not recommended, except with impaired wound healing; antiviral prophylaxis is recommended when treating the face and genitalia; and antifungal prophylaxis is not recommended. The guideline's 15 recommendations address 5 areas of LADD use: (I) indications and contraindications; (II) parameters to report; (III) optimization of drug delivery; (IV) safety considerations; and (V) prophylaxis for bacterial, viral, and fungal infections.Conclusions and Relevance: This systematic review and Delphi consensus approach culminated in an evidence-based clinical practice guideline for safe and effective use of LADD in a variety of applications. Future research will further improve our understanding of this novel treatment technique.

  View details for DOI 10.1001/jamadermatol.2022.3234

  View details for PubMedID 35976634

• Patient-reported disease burden in epidermolysis bullosa simplex (EBS) So, J., Fulchand, S., Wong, C., Li, S., Nazaroff, J., Gorell, E., de Souza, M. P., Murrell, D., Teng, J., Chiou, A., Tang, J. ELSEVIER SCIENCE INC. 2022: S33

  View details for Web of Science ID 000829693000369

• Importance of six-month dosing with QTORIN rapamycin to achieve maximal effect in patients with pachyonychia congenita Teng, J., Martini, J., Funk, T., Connor, J., Cook, E., Hansen, D., Paller, A. ELSEVIER SCIENCE INC. 2022: B16

  View details for Web of Science ID 000829693000076

• The CONTROL study: A randomized, double-blind vehicle-controlled Phase 2b study of novel topical isotretinoin formulation demonstrates improvement in recessive X-linked and autosomal recessive lamellar congenital ichthyosis. Journal of the American Academy of Dermatology Teng, J. M., Bunick, C. G., Guenthner, S., Murrell, D. F., Marathe, K., Kempers, S., Eads, K., Mendelsohn, A. M., Raiz, J., Tavakkol, A., Castelo-Soccio, L. 2022

  View details for DOI 10.1016/j.jaad.2022.07.028

  View details for PubMedID 35872261

• Sirolimus in the Treatment of Microcystic Lymphatic Malformations: A Systematic Review. Lymphatic research and biology Teng, J. M., Hammill, A., Martini, J., Treat, J. 2022

  Abstract

  Background: Genetic alterations in lymphatic development can lead to microcystic lymphatic malformations (micro LMs). LMs can have both microcystic and macrocytic components or be exclusively one or the other. LMs can result in serious, sometimes life-threatening, sequelae. Absent consensus guidelines, treatment has been largely empiric. Recent advances in our understanding of the pathogenesis of micro LMs have provided a foundation for novel therapeutic approaches. This review examines clinical data over the last 10 years on the role of sirolimus, an inhibitor of the PI3K/AKT/mTOR signaling pathway implicated in micro LM development, in the treatment of micro LM. Methods and Results: Systematic review of published clinical studies from January 1, 2011, to July 15, 2021, using the PubMed, Google Scholar, and Cochrane Reviews databases, and utilizing delimiters to focus specifically on sirolimus in the treatment of micro LM. A total of 16 studies were identified (13 case studies or case reviews; 3 prospective) that included 52 subjects treated with topical (n=15) or oral (n=37) sirolimus for micro LM. Clinically meaningful, long-term improvement (up to 3 years) was noted in 92% (46/50), mostly previously treated subjects. Sirolimus yielded improvements in key manifestations such as lymphatic leakage, bleeding, vesicle bulk, pain, and skin discoloration. Some subjects experienced a rapid onset of effect (within 2 weeks). No unexpected adverse events were seen. Conclusion: Sirolimus appears to be an effective and safe option in the management of cutaneous and complex micro LM. However, prospective, controlled trials are clearly needed to accurately elucidate the benefits and risks of sirolimus in the management of micro LM. ClinicalTrials.gov Identifier: NCT05050149.

  View details for DOI 10.1089/lrb.2021.0103

  View details for PubMedID 35852876

• A global, cross-sectional survey of patient-reported outcomes, disease burden, and quality of life in epidermolysis bullosa simplex. Orphanet journal of rare diseases So, J. Y., Fulchand, S., Wong, C. Y., Li, S., Nazaroff, J., Gorell, E. S., de Souza, M. P., Murrell, D. F., Teng, J. M., Chiou, A. S., Tang, J. Y. 2022; 17 (1): 270

  Abstract

  Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-related quality of life (QOL) of patients with EBS. The aim of this study was to characterize the most common patient-reported clinical manifestations and the health-related impact of QOL in EBS, and to examine differences in disease burden by age.Patients with a diagnosis of epidermolysis bullosa (EB) or their caregivers completed a one-time online survey administered by EBCare, an international online EB registry. Survey data from respondents self-reporting a diagnosis of EBS were analyzed for clinical and wound manifestations, medication use, and QOL (using Quality of Life in Epidermolysis Bullosa [QOLEB] scores). Differences across age groups were assessed using Kruskal-Wallis and Fisher's exact tests.There were 214 survey respondents with EBS. The mean age was 32.8 years (standard deviation = 19.2). Many respondents reported blisters (93%), recurrent wounds (89%), pain (74%), chronic wounds (59%), itch (55%), and difficulty walking (44%). Mean QOLEB score was 14.7 (standard deviation = 7.5) indicating a "moderate" impact on QOL, and 12% of respondents required regular use of opiates. Findings were consistent in subgroup analyses restricted to respondents with diagnostic confirmation via genetic testing or skin biopsy (n = 63 of 214). Age-stratified analyses revealed differences in disease burden: younger respondents were more likely to self-report severe disease (24% vs. 19% vs. 5% for respondents aged 0-9 vs. 10-17 vs. 18 + , p = 0.001), failure to thrive (9% vs. 15% vs. 3%, p = 0.02), and use of gastrostomy tubes (15% vs. 12% vs. 1%, p < 0.001) and topical antibiotics (67% vs. 69% vs. 34%, p < 0.001), while older respondents were more likely to be overweight or obese (6% vs. 0% vs. 51%, p < 0.001) and have difficulty walking (24% vs. 46% vs. 48%, p = 0.04).In the largest international cross-sectional survey of EBS patients conducted, respondents reported extensive disease burden including significant wounding, pain, itch, difficulty walking, and impact on QOL. Age stratified disease manifestations. These findings suggest significant unmet need, and treatment and counseling for EBS patients should consider age-specific differences.

  View details for DOI 10.1186/s13023-022-02433-3

  View details for PubMedID 35841105

• Ovarian fibroma as a novel indicator for burden of basal cell carcinoma in women with Gorlin syndrome: a retrospective cross-sectional analysis of the Gorlin syndrome national patient registry. International journal of women's dermatology Wu, T. T., Pithadia, D. J., Teng, J. M. 2022; 8 (2): e020

  View details for DOI 10.1097/JW9.0000000000000020

  View details for PubMedID 35720808

• Annual prevalence estimation of lymphatic malformation with a cutaneous component: observational study of a national representative sample of physicians. Orphanet journal of rare diseases Gallagher, J. R., Martini, J., Carroll, S., Small, A., Teng, J. 2022; 17 (1): 192

  Abstract

  BACKGROUND: Lymphatic malformations (LMs) represent a potentially life-threatening, rare disease of the lymphatic system characterized by development of abnormal vessels, outpouchings, or cysts filled with lymphatic fluid. There are three morphologic types of LMs based on the size of the individual cysts: macrocystic (typically>2cm), microcystic (generally<2cm), and mixed (includes aspects of both). Macrocystic LMs typically exist beneath the skin and often can involve vascular components and/or organs. Microcystic LMs often have a cutaneous component and clinically present with lymphorrhea, bleeding, pain, itching, malodor, and functional deficits. There are no treatments approved by the US Food and Drug Administration (FDA) for either macrocystic or microcystic lymphatic malformations. The totality of the epidemiologic literature for LM is limited to the incidence of the disease among various birth cohorts. This is the first nationally representative study to estimate the national managed prevalence for patients with microcystic LM or combined LM with a cutaneous component annually across physician specialties likely to manage this condition. We conducted a retrospective observational survey of a nationally representative sample of patient-care physicians in the United States most likely to manage lymphatic malformations with a cutaneous component (LMC). Once recruited, target physicians participated via an electronic questionnaire. We weighted study physician self-estimates of the number of LMC patients treated in the past 12months to reflect the specialists' corresponding proportion in the national universe. All patient information was anonymous; no personally identifiable information was collected.RESULTS: Of the 420 physicians who visited the study website, 316 agreed to be screened and to participate (75.2% participation rate). Our survey results indicated the estimated number of unique annually managed LMC patients by target specialists is 79,920 (CI 66,600-93,250). This number corresponds to managed prevalence of 24.1 LMC patients per 100,000 population (CI 19.6/100,000-28.4/100,000).CONCLUSIONS: The study indicates that while rare, LMC affects a substantial number of people in the US (79,920) who are being managed by one or more specialists. By better understanding the prevalence of people living with LMC who require treatment, efforts to both increase disease awareness and to identify underserved populations in need of potential new treatments can be better focused.

  View details for DOI 10.1186/s13023-022-02336-3

  View details for PubMedID 35550604

• Spitz nevus with EHBP1-ALK fusion and distinctive membranous localization of ALK. Journal of cutaneous pathology Bahrani, E., Kunder, C. A., Teng, J. M., Brown, R. A., Rieger, K. E., Novoa, R. A., Cloutier, J. M. 1800

  Abstract

  ALK rearrangements define a histopathologically distinctive but diverse subset of Spitz tumors characterized by fusiform to epithelioid melanocytes with frequent fascicular growth and ALK overexpression. Molecularly, these tumors are characterized by fusions between ALK and a variety of other genes, most commonly TPM3 and DCTN1. We describe an unusual case of a Spitz nevus occurring in a 13-year-old female that manifested ALK immunopositivity with cell membrane localization. The proliferation was polypoid and composed of elongated nests of epithelioid melanocytes with enlarged nuclei, prominent nucleoli, and abundant cytoplasm without significant atypia and lacking mitotic figures. The nevus exhibited strong and diffuse expression of p16. Targeted next-generation RNA sequencing revealed an in-frame EHBP1-ALK fusion, which has been reported only once in the literature. EHBP1 encodes an adaptor protein with plasma membrane targeting potential. Together, these findings suggest that the 5' ALK fusion partner in Spitz tumors may dictate the subcellular localization of the ALK chimeric oncoprotein. In summary, this case highlights a rare ALK fusion associated with a distinct immunohistochemical staining pattern and further expands the spectrum of ALK-rearranged melanocytic tumors. This article is protected by copyright. All rights reserved.

  View details for DOI 10.1111/cup.14209

  View details for PubMedID 35113459

• Eruptive nevi in a patient with constitutional mismatch repair deficiency (CMMRD). Pediatric dermatology Vassantachart, J. M., Zacher, N. C., Teng, J. M. 2021

  Abstract

  Biallelic mutations in the DNA mismatch repair genes MLH1, MSH2, MSH6, or PMS2 result in one of the most aggressive genetic cancer conditions, constitutional mismatch repair syndrome (CMMRD). We present a case of a 10-year-old boy with biallelic MSH6 mutation and systemic lupus erythematosus with eruptive melanocytic nevi after receiving chemotherapy for mediastinal T-cell lymphoblastic lymphoma.

  View details for DOI 10.1111/pde.14861

  View details for PubMedID 34787334

• Impact of oral abrocitinib on signs, symptoms and quality of life among adolescents with moderate-to-severe atopic dermatitis: an analysis of patient-reported outcomes. Journal of the European Academy of Dermatology and Venereology : JEADV Cork, M. J., McMichael, A., Teng, J., Valdez, H., Rojo, R., Chan, G., Zhang, F., Myers, D. E., DiBonaventura, M. 2021

  Abstract

  BACKGROUND: A significant improvement in clinical signs was demonstrated with abrocitinib relative to placebo in adolescents with moderate-to-severe atopic dermatitis (AD) in three phase 3, randomized, double-blinded, placebo-controlled studies (JADE TEEN [ClinicalTrials.gov, NCT03796676], JADE MONO-1 [NCT03349060] and JADE MONO-2 [NCT03575871]).OBJECTIVES: To evaluate the impact of abrocitinib on patient-reported signs/symptoms, including sleep loss and quality of life among adolescents with moderate-to-severe AD.METHODS: JADE TEEN, JADE MONO-1 and JADE MONO-2 were conducted in the Asia-Pacific region, Europe and North America and included patients aged 12 to 17 years with moderate-to-severe AD and inadequate response to ≥4 consecutive weeks of topical medication or treatment with systemic therapy for AD. Patients were randomly assigned (1:1:1, JADE TEEN; 2:2:1, JADE MONO-1/-2) to receive once-daily oral abrocitinib (200 mg or 100 mg) or placebo for 12 weeks in combination with topical therapy (JADE TEEN) or as monotherapy (JADE MONO-1/-2). Data from adolescent patients in JADE MONO-1/-2 were pooled for these analyses.RESULTS: At week 12, more adolescents treated with abrocitinib (200 mg or 100 mg) vs. placebo achieved a ≥4-point improvement from baseline in the Patient-Oriented Eczema Measure in JADE TEEN (83.9% and 77.0% vs. 60.2%) and JADE MONO-1/-2 (83.0% and 69.4% vs. 43.5%) and a ≥6-point improvement from baseline in the Children's Dermatology Life Quality Index in JADE TEEN (73.8% and 67.5% vs. 56.5%) and JADE MONO-1/-2 (70.0% and 57.1% vs. 19.0%). Significant improvements in SCORing Atopic Dermatitis Visual Analog Scale for sleep loss scores were demonstrated with abrocitinib vs. placebo at weeks 2 to 12 in JADE TEEN and JADE MONO-1/-2.CONCLUSIONS: Patient-reported signs/symptoms, including reduction of sleep loss and quality of life, were substantially improved with abrocitinib monotherapy or combination therapy relative to placebo in adolescents with moderate-to-severe AD.

  View details for DOI 10.1111/jdv.17792

  View details for PubMedID 34743361

• Psoriasiform dermatitis during dupilumab treatment for moderate-to-severe atopic dermatitis in children. Pediatric dermatology Parker, J. J., Sugarman, J. L., Silverberg, N. B., Gonzalez, M. E., Ramien, M. L., Teng, J. M., Paller, A. S. 2021

  Abstract

  BACKGROUND/OBJECTIVES: Psoriasiform eruptions after initiation of dupilumab have been previously described in adults. This report details the risk of developing or unmasking psoriasiform eruptions after initiation of dupilumab in children.METHODS: Records of patients ≤18years of age with atopic dermatitis who developed psoriasiform dermatitis during treatment with dupilumab were reviewed retrospectively.RESULTS: Six children, 4-18years of age, on dupilumab for severe atopic dermatitis developed new-onset psoriasiform dermatitis at a median duration of 8months (range, 6-12months) after dupilumab initiation. Typical locations of psoriasis were involved (face, scalp, trunk, and extensor extremities). The majority showed clearance or near clearance with the use of medium-strength to potent topical corticosteroid ointments and 83% continued use of the dupilumab. A 7th patient had psoriasis, in addition to severe atopic dermatitis, and the psoriasis was unmasked by its failure to respond to dupilumab.CONCLUSION: Although unusual, psoriasiform lesions can appear during effective treatment with dupilumab for atopic dermatitis, potentially reflecting a shift toward cutaneous IL-23/TH 17 pathway activation with dupilumab-induced suppression of type 2 immunity.

  View details for DOI 10.1111/pde.14820

  View details for PubMedID 34647354

• Executive Summary: Consensus Recommendations for the Use of Retinoids in Ichthyosis and Other Disorders of Cornification in Children and Adolescents. Journal of the American Academy of Dermatology Zaenglein, A. L., Levy, M. L., Stefanko, N. S., Benjamin, L. T., Bruckner, A. L., Choate, K., Craiglow, B. G., DiGiovanna, J. J., Eichenfield, L. F., Elias, P., Fleckman, P., Lawley, L. P., Lewis, R. A., Lucky, A. W., Mathes, E. F., Milstone, L. M., Paller, A. S., Patel, S. S., Siegel, D. H., Teng, J., Tanumihardjo, S. A., Thaxton, L., Williams, M. L. 2021

  Abstract

  Topical and systemic retinoids are often used long-term in the treatment of ichthyoses and other disorders of cornification. The Pediatric Dermatology Research Alliance (PeDRA) Use of Retinoids in Ichthyosis Work Group was formed to address the numerous clinical concerns with use of these medications in children and adolescents and to establish best practices regarding the use of retinoids. Consensus was achieved using the Delphi process with recommendations based on the best available evidence and expert opinion. An executive summary of the results is presented herein.

  View details for DOI 10.1016/j.jaad.2021.08.047

  View details for PubMedID 34499997

• Altered gene expression following targeted therapy for vascular malformation Teng, J. M. ELSEVIER SCIENCE INC. 2021: S77

  View details for Web of Science ID 000641872800445

• Next generation sequencing confirms T-cell clonality in a subset of pediatric pityriasis lichenoides. Journal of cutaneous pathology Raghavan, S. S., Wang, J. Y., Gru, A. A., Marqueling, A. L., Teng, J. M., Brown, R. A., Novoa, R. A., Kim, Y., Zehnder, J., Zhang, B. M., Rieger, K. E. 2021

  Abstract

  Pityriasis lichenoides (PL) is a papulosquamous disease that affects both adults and children. Previous studies have shown a subset of this entity to have clonal T-cell populations via PCR based assays. In this study, we sought to implement next generation sequencing as a more sensitive and specific test to examine for T-cell clonality within the pediatric population.We identified 18 biopsy specimens from 12 pediatric patients with clinical and histopathologic findings compatible with PL. Patient demographics, clinical features, management, and histopathologic findings were reviewed. All specimens were analyzed for clonality with next generation sequencing of T-cell receptor beta (TRB) and gamma (TRG) genes.Of the 12 patients, 9 (75%) had complete resolution of lesions at the time of data collection (mean follow up 31 months). The remaining three patients significantly improved with methotrexate (with or without acitretin). Interestingly, 7 of 12 patients (58%) and 9 of 17 biopsy specimens (53%) showed evidence of T-cell clonality. Two patients showed matching TRB clones from different anatomic sites.T-cell clonality is a common finding in PL, likely representing a "reactive clonality" rather than a true lymphoproliferative disorder. Clonality alone cannot be used as a means to distinguish PL from lymphomatoid papulosis or cutaneous lymphoma. This article is protected by copyright. All rights reserved.

  View details for DOI 10.1111/cup.14143

  View details for PubMedID 34614220

• Neonatal Dermatology: The Normal, the Common, and the Serious. NeoReviews Goodarzi, H. n., Wu, T. T., Wang, J. n., Teng, J. M. 2021; 22 (1): e40–e51

  Abstract

  The objective of this review is to help practitioners of neonatal and pediatric medicine become more familiar with diagnosing and managing neonatal skin conditions. This article will discuss normal neonatal skin care and benign and common rashes, as well as some of the serious dermatologic conditions that require specialists for further evaluation and/or treatment.

  View details for DOI 10.1542/neo.22-1-e40

  View details for PubMedID 33386313

• IMMUNE CELL PROFILING OF WOUNDS FROM EPIDERMOLYSIS BULLOSA PATIENTS Fuentes, I., Guttmann-Gruber, C., Tockner, B., Diem, A., Klausegger, A., Cofre-Araneda, G., Figuera, O., Hidalgo, Y., Morande, P., Palisson, F., Rebolledo-Jaramillo, B., Yubero, M., Cho, R. J., Rishel, H. I., Marinkovich, M., Teng, J., Webster, T. G., Prisco, M., Eraso, L. H., Hofbauer, J., South, A. P. ACTA DERMATO-VENEREOLOGICA. 2020: 46

  View details for Web of Science ID 000568327600126

• Atypical presentations of congenital hemangiomas: Extending the clinical phenotype. Pediatric dermatology West, E. S., Totoraitis, K., Yadav, B., Kirkorian, A. Y., Drolet, B. A., Teng, J. M., Smidt, A. C., Sugarman, J. L., Frieden, I. J. 2019

  Abstract

  BACKGROUND/OBJECTIVES: Congenital hemangiomas (CH) are a group of benign vascular tumors that are present at birth and exhibit variable involution during infancy. Congenital hemangiomas that do not involute are typically solitary patch or plaque-type tumors that grow proportionally with somatic growth. We report a case series of 9 patients with persistent CH, which exhibited uncommon features including segmental involvement, recurrent or severe pain, or growth via volumetric increase in size or apparent increased extent of anatomic involvement over time.METHODS: Via retrospective chart review, we included patients with persistent CH and atypical presentations. Available data regarding clinical characteristics, natural history, histopathology, imaging, and genetic tests were collected.RESULTS: Data on 9 patients were collected, including 7 noninvoluting CH and 2 partially involuting CH. Three of the 9 cases had segmental distribution, 6 had apparent growth or clinical evolution, and 4 were symptomatic with pain. One also had marked localized intravascular coagulopathy.CONCLUSIONS: Ongoing or recurrent pain and large extent of anatomic involvement can be features of CH, albeit uncommon ones, and can pose both diagnostic and management challenges. Tissue genomic studies can offer a novel tool for CH diagnosis.

  View details for DOI 10.1111/pde.13930

  View details for PubMedID 31576603

• Price variation in acne therapy: Affordability depends on both physicians and patients Lee, G., Fogel, A. L., Teng, J. MOSBY-ELSEVIER. 2019: AB107

  View details for Web of Science ID 000482195001039

• Efficacy of fixed-dose combination calcipotriene 0.005% and betamethasone dipropionate 0.064% foam in adolescent patients with psoriasis: Results from a phase 2 trial Liljedahl, M., Abramovits, W., Hoejen, M. N., Teng, J. MOSBY-ELSEVIER. 2019: AB201

  View details for Web of Science ID 000482195002015

• Safety of fixed-dose combination calcipotriene 0.005% and betamethasone dipropionate 0.064% foam in adolescent patients with psoriasis: Results from a phase 2 trial Liljedahl, M., Abramovits, W., Hoejen, M. N., Teng, J. MOSBY-ELSEVIER. 2019: AB271

  View details for Web of Science ID 000482195002261

• Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review AMERICAN JOURNAL OF MEDICAL GENETICS PART A Kumar, A., Zastrow, D. B., Kravets, E. J., Beleford, D., Ruzhnikov, M. Z., Grove, M. E., Dries, A. M., Kohler, J. N., Waggott, D. M., Yang, Y., Huang, Y., Mackenzie, K. M., Eng, C. M., Fisher, P. G., Ashley, E. A., Teng, J. M., Stevenson, D. A., Shieh, J. T., Wheeler, M. T., Bernstein, J. A., Adams, D. R., Aday, A., Alejandro, M. E., Allard, P., Azamian, M. S., Bacino, C. A., Baker, E., Balasubramanyam, A., Barseghyan, H., Batzli, G. F., Beggs, A. H., Behnam, B., Bellen, H. J., Bican, A., Bick, D. P., Birch, C. L., Bonner, D., Boone, B. E., Bostwick, B. L., Briere, L. C., Brokamp, E., Brown, D. M., Brush, M., Burke, E. A., Burrage, L. C., Butte, M. J., Chen, S., Clark, G. D., Coakley, T. R., Cogan, J. D., Colley, H. A., Cooper, C. M., Cope, H., Craigen, W. J., D'Souza, P., Davids, M., Davidson, J. M., Dayal, J. G., Dell'Angelica, E. C., Dhar, S. U., Dipple, K. M., Donnell-Fink, L. A., Dorrani, N., Dorset, D. C., Douine, E. D., Draper, D. D., Eckstein, D. J., Emrick, L. T., Enns, G. M., Eskin, A., Esteves, C., Estwick, T., Fairbrother, L., Fernandez, L., Ferreira, C., Fieg, E. L., Fogel, B. L., Friedman, N. D., Gahl, W. A., Glanton, E., Godfrey, R. A., Goldman, A. M., Goldstein, D. B., Gould, S. E., Gourdine, J. F., Groden, C. A., Gropman, A. L., Haendel, M., Hamid, R., Hanchard, N. A., High, F., Holm, I. A., Hom, J., Howerton, E. M., Jamal, F., Jiang, Y., Johnston, J. M., Jones, A. L., Karaviti, L., Koeller, D. M., Kohane, I. S., Krasnewich, D. M., Korrick, S., Koziura, M., Krier, J. B., Kyle, J. E., Lalani, S. R., Lau, C., Lazar, J., LeBlanc, K., Lee, B. H., Lee, H., Levy, S. E., Lewis, R. A., Lincoln, S. A., Loo, S. K., Loscalzo, J., Maas, R. L., Macnamara, E. F., MacRae, C. A., Maduro, V. V., Majcherska, M. M., Malicdan, M., Mamounas, L. A., Manolio, T. A., Markello, T. C., Marom, R., Martin, M. G., Martinez-Agosto, J. A., Marwaha, S., May, T., McConkie-Rosell, A., McCormack, C. E., McCray, A. T., Merker, J. D., Metz, T. O., Might, M., Moretti, P. M., Morimoto, M., Mulvihill, J. J., Murdock, D. R., Murphy, J. L., Muzny, D. M., Nehrebecky, M. E., Nelson, S. F., Newberry, J., Newman, J. H., Nicholas, S. K., Novacic, D., Orange, J. S., Orengo, J. P., Pallais, J., Palmer, C. S., Papp, J. C., Parker, N. H., Pena, L. M., Phillips, J. A., Posey, J. E., Postlethwait, J. H., Potocki, L., Pusey, B. N., Reuter, C. M., Rives, L., Robertson, A. K., Rodan, L. H., Rosenfeld, J. A., Sampson, J. B., Samson, S. L., Schoch, K., Scott, D. A., Shakachite, L., Sharma, P., Shashi, V., Signer, R., Silverman, E. K., Sinsheimer, J. S., Smith, K. S., Spillmann, R. C., Staler, J. M., Stong, N., Sullivan, J. A., Sweetser, D. A., Tan, Q., Tifft, C. J., Toro, C., Tran, A. A., Urv, T. K., Vilain, E., Vogel, T. P., Wahl, C. E., Walley, N. M., Walsh, C. A., Walker, M., Wan, J., Wangler, M. F., Ward, P. A., Waters, K. M., Webb-Robertson, B. M., Westerfield, M., Wise, A. L., Wolfe, L. A., Worthey, E. A., Yamamoto, S., Yang, J., Yoon, A. J., Yu, G., Zhao, C., Zheng, A., Undiagnosed Dis Network 2019; 179 (6): 966–77

  View details for DOI 10.1002/ajmg.a.61134

  View details for Web of Science ID 000468322800015

• Successful treatment of spindle cell hemangiomas in a patient with Maffucci syndrome and review of literatures DERMATOLOGIC THERAPY Lekwuttikarn, R., Chang, J., Teng, J. C. 2019; 32 (3)

  View details for DOI 10.1111/dth.12919

  View details for Web of Science ID 000471833800058

• A multicenter study on the use of Sildenafil for lymphatic malformation in children Teng, C., Lekwuttikarn, R., Tafoya, E., Martin, M., Bruckner, A., Mancini, A., Stell, L., Lu, Y., Teng, J. ELSEVIER SCIENCE INC. 2019: S67

  View details for Web of Science ID 000465561503105

• Pilot study of topical sirolimus use for painful keratoderma in EBS patients Teng, J., Martin, M., Teng, C., Tafoya, E., Lekwuttikarn, R., Stell, L., Lu, Y. ELSEVIER SCIENCE INC. 2019: S116

  View details for Web of Science ID 000465561504102

• Successful Treatment of Spindle Cell Hemangiomas in a Patient with Maffucci Syndrome and Review of literatures. Dermatologic therapy Lekwuttikarn, R., Chang, J., Teng, J. M. 2019: e12919

  View details for PubMedID 30977938

• PHACOMATOSIS PIGMENTOVASCULARIS AND EXTRACUTANEOUS MANIFESTATIONS: CASE SERIES, LITERATURE REVIEW AND CONSIDERATIONS FOR MANAGEMENT Kumar, A., Zastrow, D. B., Beleford, D., Ruzhnikov, M. Z., Grove, M. E., Dries, A. M., Kohler, J. N., Waggott, D. M., Yang, Y., Huang, Y., Mackenzie, K. M., Eng, C. M., Fisher, P. G., Ashley, E. A., Teng, J. M., Stevenson, D. A., Shieh, J. T., Wheeler, M. T., Bernstein, J. A., Undiagnosed Dis Network WILEY. 2019: 718–19

  View details for Web of Science ID 000462676800119

• CONGENITAL ICHTHYOSIS AND CATARACTS REPRESENT A MILD PHENOTYPE OF CHANARIN-DORFMAN SYNDROME, A POTENTIALLY TREATABLE NEUTRAL LIPID STORAGE DISORDER Hudgins, L., Foskett, G., Hanson-Kahn, A., Kuu, P., Teng, J., Choate, K. WILEY. 2019: 737

  View details for Web of Science ID 000462676800156

• Extracutaneous manifestations in phacomatosis cesioflammea and cesiomarmorata: Case series and literature review. American journal of medical genetics. Part A Kumar, A., Zastrow, D. B., Kravets, E. J., Beleford, D., Ruzhnikov, M. R., Grove, M. E., Dries, A. M., Kohler, J. N., Waggott, D. M., Yang, Y., Huang, Y., Undiagnosed Diseases Network, Mackenzie, K. M., Eng, C. M., Fisher, P. G., Ashley, E. A., Teng, J. M., Stevenson, D. A., Shieh, J. T., Wheeler, M. T., Bernstein, J. A. 2019

  Abstract

  Phacomatosis pigmentovascularis (PPV) comprises a family of rare conditions that feature vascular abnormalities and melanocytic lesions that can be solely cutaneous or multisystem in nature. Recently published work has demonstrated that both vascular and melanocytic abnormalities in PPV of the cesioflammea and cesiomarmorata subtypes can result from identical somatic mosaic activating mutations in the genes GNAQ and GNA11. Here, we present three new cases of PPV with features of the cesioflammea and/or cesiomarmorata subtypes and mosaic mutations in GNAQ or GNA11. To better understand the risk of potentially occult complications faced by such patients we additionally reviewed 176 cases published in the literature. We report the frequency of clinical findings, their patterns of co-occurrence as well as published recommendations for surveillance after diagnosis. Features assessed include: capillary malformation; dermal and ocular melanocytosis; glaucoma; limb asymmetry; venous malformations; and central nervous system (CNS) anomalies, such as ventriculomegaly and calcifications. We found that ocular findings are common in patients with phacomatosis cesioflammea and cesiomarmorata. Facial vascular involvement correlates with a higher risk of seizures (p=.0066). Our genetic results confirm the role of mosaic somatic mutations in GNAQ and GNA11 in phacomatosis cesioflammea and cesiomarmorata. Their clinical and molecular findings place these conditions on a clinical spectrum encompassing other GNAQ and GNA11 related disorders and inform recommendations for their management.

  View details for PubMedID 30920161

• Laser-Assisted Delivery of Topical Rapamycin: mTOR Inhibition for Birt-Hogg-Dube Syndrome. Dermatologic surgery : official publication for American Society for Dermatologic Surgery [et al.] Kim, D., Wysong, A., Teng, J. M., Rahman, Z. 2019

  View details for PubMedID 30640787

• Successful Medical Management of Life-threatening Hepatic Hemangioma in Neonates. Pediatrics Lekwuttikarn, R. n., Josephs, S. n., Teng, J. M. 2019

  Abstract

  Hepatic hemangioma (HH) is a common asymptomatic, self-limiting benign vascular tumor of the liver in neonates. Although complicated HHs are rare, they have significant risks of morbidity and mortality, especially during the perinatal period. Because of the high risks of complications from surgical interventions, there is an unmet need for effective medical therapy. We report 2 neonates with life-threatening HH who were evaluated for a liver transplant before being treated successfully with combined medical therapy, which included sirolimus, corticosteroids, and propranolol.

  View details for DOI 10.1542/peds.2019-1339

  View details for PubMedID 31511312

• RASA1-dependent cellular export of collagen IV controls blood and lymphatic vascular development. The Journal of clinical investigation Chen, D. n., Teng, J. M., North, P. E., Lapinski, P. E., King, P. D. 2019; 130

  Abstract

  Combined germline and somatic second hit inactivating mutations of the RASA1 gene, which encodes a negative regulator of the Ras signaling pathway, cause blood and lymphatic vascular lesions in the human autosomal dominant vascular disorder capillary malformation-arteriovenous malformation (CM-AVM). How RASA1 mutations in endothelial cells (EC) result in vascular lesions in CM-AVM is unknown. Here, using different murine models of RASA1-deficiency, we found that RASA1 was essential for the survival of EC during developmental angiogenesis in which primitive vascular plexuses are remodeled into hierarchical vascular networks. RASA1 was required for EC survival during developmental angiogenesis because it was necessary for export of collagen IV from EC and deposition in vascular basement membranes. In the absence of RASA1, dysregulated Ras mitogen-activated protein kinase (MAPK) signal transduction in EC resulted in impaired folding of collagen IV and its retention in the endoplasmic reticulum (ER) leading to EC death. Remarkably, the chemical chaperone, 4-phenylbutyric acid, and small molecule inhibitors of MAPK and 2-oxoglutarate dependent collagen IV modifying enzymes rescued ER retention of collagen IV and EC apoptosis and resulted in normal developmental angiogenesis. These findings have important implications with regards an understanding of the molecular pathogenesis of CM-AVM and possible means of treatment.

  View details for DOI 10.1172/JCI124917

  View details for PubMedID 31185000

• Genotype-Guided Medical Treatment of an Arteriovenous Malformation in a Child. JAMA dermatology Lekwuttikarn, R., Lim, Y. H., Admani, S., Choate, K. A., Teng, J. M. 2018

  View details for PubMedID 30566190

• Patch testing in gastrointestinal diseases - a systematic review of the patch test and atopy patch test JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY Gayam, S., Zinn, Z., Chelliah, M., Teng, J. 2018; 32 (9): E349-+

  View details for PubMedID 29524260

• Cutaneous manifestations of nutritional deficiency CURRENT OPINION IN PEDIATRICS Lekwuttikarn, R., Teng, J. C. 2018; 30 (4): 505–13

  Abstract

  Childhood malnutrition is a major global health issue. It is often thought of as a developing world problem and therefore, underdiagnosed or misdiagnosed in developed countries. The delay in diagnosis and treatment can lead to increased morbidity and mortality. Cutaneous manifestations are often the initial presenting signs of nutritional deficiency. Early recognition is essential in timely initiation of the necessary interventions. This article will review pertinent cutaneous findings and systemic manifestations associated with common nutritional deficiencies.Malnutrition has historically been associated with poverty in developing countries. However, recent literatures suggest that the incidence of nutritional deficiencies continuous to rise among infants from developed countries, as a result of dietary restrictions because of perceived food allergies or intolerance. It is also an emerging finding in children with complicated medical problems.It is very important to raise awareness about cutaneous manifestations of nutritional deficiency as early and appropriate treatment results in excellent prognosis.

  View details for PubMedID 29771760

• Assessing Whether the Cataracts Associated With Atopic Dermatitis are Associated With Steroids or Inflammatory Factors. JAMA ophthalmology Lambert, S. R., Teng, J. M. 2018

  View details for PubMedID 29879288

• Novel treatment of painful plantar keratoderma in pachyonychia congenita using topical sirolimus. Clinical and experimental dermatology Teng, J. M., Bartholomew, F. B., Patel, V., Sun, G. 2018

  View details for PubMedID 29882237

• ANTICOAGULATION FOR TREATMENT OF PAIN IN VENOUS MALFORMATIONS Chien, M., Kreimer, S., Teng, J., Marqueling, A., Jeng, M. WILEY. 2018

  View details for Web of Science ID 000428851200243

• RASA1-RELATED DISORDERS Stevenson, D. A., Wooderchak-Donahue, W., Johnson, P., McDonald, J., Teng, J. M., Lungren, M., Bayrak-Toydemir, P. WILEY. 2018: 1531–32

  View details for Web of Science ID 000434040600166

• Self-initiated use of topical cannabidiol oil for epidermolysis bullosa. Pediatric dermatology Chelliah, M. P., Zinn, Z., Khuu, P., Teng, J. M. 2018

  Abstract

  Epidermolysis bullosa is a rare blistering skin disorder that is challenging to manage because skin fragility and repeated wound healing cause itching, pain, limited mobility, and recurrent infections. Cannabidiol, an active cannabinoid found in cannabis, is postulated to have antiinflammatory and analgesic effects. We report 3 cases of self-initiated topical cannabidiol use in patients with epidermolysis bullosa in an observational study. One patient was weaned completely off oral opioid analgesics. All 3 reported faster wound healing, less blistering, and amelioration of pain with cannabidiol use. Although these results demonstrate promise, further randomized, double-blind clinical trials are necessary to provide scientific evidence of our observed benefits of cannabidiol for the treatment of epidermolysis bullosa.

  View details for PubMedID 29786144

• Update in diagnosis and management of cutaneous skin disorders in children. Current opinion in pediatrics Teng, J. M. 2018

  View details for PubMedID 29771762

• Guidelines of care for the management of cutaneous squamous cell carcinoma JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Alam, M., Armstrong, A., Baum, C., Bordeaux, J. S., Brown, M., Busam, K. J., Eisen, D. B., Iyengar, V., Lober, C., Margolis, D. J., Messina, J., Miller, A., Miller, S., Mostow, E., Mowad, C., Nehal, K., Schmitt-Burr, K., Sekulic, A., Storrs, P., Teng, J., Yu, S., Huang, C., Boyer, K., Begolka, W., Bichakjian, C., Kim, J. S., Kozlow, J. H., Mittal, B., Moyer, J., Olenecki, T., Rodgers, P. 2018; 78 (3): 560–78

  Abstract

  Cutaneous squamous cell carcinoma (cSCC) is the second most common form of human cancer and has an increasing annual incidence. Although most cSCC is cured with office-based therapy, advanced cSCC poses a significant risk for morbidity, impact on quality of life, and death. This document provides evidence-based recommendations for the management of patients with cSCC. Topics addressed include biopsy techniques and histopathologic assessment, tumor staging, surgical and nonsurgical management, follow-up and prevention of recurrence, and management of advanced disease. The primary focus of these recommendations is on evaluation and management of primary cSCC and localized disease, but where relevant, applicability to recurrent cSCC is noted, as is general information on the management of patients with metastatic disease.

  View details for DOI 10.1016/j.jaad.2017.10.007

  View details for Web of Science ID 000424883000025

  View details for PubMedID 29331386

• Guidelines of care for the management of basal cell carcinoma JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Bichakjian, C., Armstrong, A., Baum, C., Bordeaux, J. S., Brown, M., Busam, K. J., Eisen, D. B., Iyengar, V., Lober, C., Margolis, D. J., Messina, J., Miller, A., Miller, S., Mostow, E., Mowad, C., Nehal, K., Schmitt-Burr, K., Sekulic, A., Storrs, P., Teng, J., Yu, S., Huang, C., Boyer, K., Begolka, W., Alam, M., Kim, J. S., Kozlow, J. H., Mittal, B., Moyer, J., Olencki, T., Rodgers, P. 2018; 78 (3): 540–59

  Abstract

  Basal cell carcinoma (BCC) is the most common form of human cancer, with a continually increasing annual incidence in the United States. When diagnosed early, the majority of BCCs are readily treated with office-based therapy, which is highly curative. In these evidence-based guidelines of care, we provide recommendations for the management of patients with BCC, as well as an in-depth review of the best available literature in support of these recommendations. We discuss biopsy techniques for a clinically suspicious lesion and offer recommendations for the histopathologic interpretation of BCC. In the absence of a formal staging system, the best available stratification based on risk for recurrence is reviewed. With regard to treatment, we provide recommendations on treatment modalities along a broad therapeutic spectrum, ranging from topical agents and superficially destructive modalities to surgical techniques and systemic therapy. Finally, we review the available literature and provide recommendations on prevention and the most appropriate follow-up for patients in whom BCC has been diagnosed.

  View details for DOI 10.1016/j.jaad.2017.10.006

  View details for Web of Science ID 000424883000024

  View details for PubMedID 29331385

• Patch testing for nonimmediate cutaneous adverse drug reactions JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Zinn, Z., Gayam, S., Chelliah, M. P., Honari, G., Teng, J. 2018; 78 (2): 421–23

  View details for PubMedID 29332717

• Rapidly spreading subcutaneous nodules in a 2-year-old boy PEDIATRIC DERMATOLOGY Zinn, Z., Kim, J., Teng, J. 2018; 35 (1): 137–38

  View details for PubMedID 29356111

• PHACOMATOSIS PIGMENTOVASCULARIS: A CASE WITH SOMATIC MUTATION IN GNAQ AND ATYPICAL PHENOTYPIC FEATURES Kumar, A., Zastrow, D., Prybol, C., Manning, M., Huang, Y., Fisher, P., Ashley, E., Teng, J., Wheeler, M., Bernstein, J. BMJ PUBLISHING GROUP. 2018: 202

  View details for DOI 10.1136/jim-2017-000663.326

  View details for Web of Science ID 000432007400337

• Long-Term Follow-Up of Lymphatic Malformations in Children Treated with Sildenafil PEDIATRIC DERMATOLOGY Tu, J. H., Tafoya, E., Jeng, M., Teng, J. M. 2017; 34 (5): 559–65

  Abstract

  Lymphatic malformations (LMs) are challenging to treat. Reports on the benefits of sildenafil for LM management have been mixed. This study evaluated long-term clinical outcomes of pediatric LM patients after sildenafil treatment.A retrospective chart review was performed on pediatric LM patients treated with sildenafil in the past 5 years. Patients were also contacted to complete a survey of comprehensive questions about their LM after sildenafil and subsequent interventions.Of 12 patients identified, 10 (83.3%) participated in the follow-up survey. The average age was 8 years (range 4-16 yrs), median treatment duration was 9 months, and the average time of follow-up after sildenafil was 4 years; one patient is still taking sildenafil. Ten patients surveyed (83.3%) reported positive therapeutic response, with improvement in the size and compressibility of their LM during posttreatment clinical visits. Six received additional interventions (four sirolimus, one sclerotherapy, one surgery) after sildenafil was discontinued, with all but one reporting a positive response to subsequent interventions. Minor side effects at the time of sildenafil treatment included mild flushing, dizziness, and transient nausea, but no adverse effects were reported at the long-term follow-up.This is the first report of long-term follow-up of pediatric LM patients treated with sildenafil. Our findings suggest that sildenafil is beneficial for the symptomatic treatment of LMs. Additional analysis on the role of sildenafil as adjuvant therapy is necessary to optimize the use of this medication in the management of complex LMs.

  View details for PubMedID 28884903

• An Atopic Dermatitis Management Algorithm for Primary Care Providers and Assessment of Its Usefulness as a Clinical Tool. Pediatric dermatology Miyar, M. E., Brown, M., Vivar, K. L., Jablon, K., Boscardin, C., Levy, M. L., Teng, J. M., Mathes, E. F. 2017

  Abstract

  There is a lack of primary care provider (PCP) understanding of atopic dermatitis (AD) treatments and topical steroid use. We designed an AD management algorithm for pediatric PCPs. We hypothesized that the algorithm would improve pediatric PCPs' knowledge of AD diagnosis and management.Pediatric primary care resident and attending physicians at three residency programs were invited to participate in an electronic AD algorithm survey that contained demographic and 19 knowledge-based questions. Participants were randomized to intervention and control groups, with the intervention group receiving a short lecture and copy of our algorithm to use in an inpatient or outpatient setting for 2 months. Changes in scores between preintervention and postintervention surveys were compared.Of the 54 participants, those in the intervention group (n = 26) performed significantly better than those in the control group (n = 28) after controlling for pretest scores (β = 1.19 [95% confidence interval 0.07, 2.32], p = 0.04). The intervention group had a higher average score on the posttest knowledge questions (71% correct) than the control group (65% correct) (p = 0.06). The majority of physicians who received the algorithm agreed or strongly agreed that they liked using the algorithm.The use of a management algorithm improved physician knowledge about the diagnosis and treatment of AD and was well accepted by physicians. Use of this management algorithm may lead to better recognition and management of AD, particularly earlier recognition of and therapy for superinfection, improving treatment outcomes and quality of life for patients and families.

  View details for DOI 10.1111/pde.13157

  View details for PubMedID 28543716

• Genetic diseases associated with an increased risk of skin cancer development in childhood. Current opinion in pediatrics Fogel, A. L., Sarin, K. Y., Teng, J. M. 2017

  Abstract

  Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals.In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis. The sonic hedgehog (SHH) pathway inhibitor vismodegib was shown in a placebo-controlled phase III randomized trial to reduce the tumor burden in patients with BCNS. Epidermolysis bullosa (EB) has been classified into four major types and more than 30 subtypes based partly on specific mutations, and best clinical practice guidelines for the management of cutaneous squamous cell carcinoma in EB have been developed. Oculocutaneous albinism (OCA) has been associated with new mutations in genes named OCA5, OCA6, and OCA7, bringing to the total number of culprit genes to seven (OCA1-OCA7).Advances in our understanding of genetic conditions that predispose to childhood skin cancer include new disease classification systems, management guidelines, and treatment options.

  View details for DOI 10.1097/MOP.0000000000000514

  View details for PubMedID 28525403

• Postzygotic Mutations in Beta-Actin are Associated with Becker's Nevus and Becker's Nevus Syndrome. journal of investigative dermatology Cai, E. D., Sun, B. K., Chiang, A., Rogers, A., Bernet, L., Cheng, B., Teng, J., Rieger, K. E., Sarin, K. Y. 2017

  View details for DOI 10.1016/j.jid.2017.03.017

  View details for PubMedID 28347698

• Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome Development of a Basal Cell Nevus Syndrome Patient Registry JAMA DERMATOLOGY Solis, D. C., Kwon, G. P., Ransohoff, K. J., Li, S., Chahal, H. S., Ally, M. S., Peters, M. A., Schmitt-Burr, K., Lindgren, J., Bailey-Healy, I., Teng, J. M., Epstein, E. H., Tang, J. Y. 2017; 153 (2): 189-192

  Abstract

  Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood.To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs.Prospective clinical registry with data collected from September 2014 to March 2016. Participants were recruited from a mailing list of patients with BCNS at Children's Hospital Oakland Research Institute and Basal Cell Carcinoma Nevus Syndrome Life Support Network. Patients of all ages with a diagnosis of BCNS were eligible for enrollment. Participants completed a clinical questionnaire on their disease characteristics and risk factors.Number of BCCs in the past 2 years and over lifetime (disease burden), risk factors for BCCs.A consecutive sample of the first 141 participants was included (34% [100 of 297] response rate from paper survey, 23% [41 of 179] from online survey; 85 [60%] female; mean age at start of study, 53 [range, 8-83] years; 131 [93%] white). In the previous 2 years, participants reported a mean of 25 BCCs (median, 11; range, 0-250). Over their lifetime, participants reported a mean of 257 BCCs (median, 160; range, 0-2200). Univariate analysis identified age (odds ratio [OR], 1.05; 95% CI, 1.03-1.07; P < .001), number of sunburns (OR, 1.05; 95% CI, 1.00-1.10; P = .047), and history of radiation exposure (OR, 2.26; 95% CI, 1.02-5.03; P = .046) as potential risk factors for lifetime BCC severity. On multivariate analysis, only age (OR, 1.04; 95% CI, 1.02-1.07; P < .001) and number of sunburns (OR, 1.06; 95% CI, 1.00-1.11; P = .04) were statistically significant. In our adjusted models, BCC burden increased by 4% per year of age and by 6% per number of sunburns.Patients with BCNS have a high burden of BCCs. Age and number of sunburns were significantly associated with the severity of lifetime BCC. Further interventions to prevent and treat BCCs in patients with BCNS are needed.

  View details for DOI 10.1001/jamadermatol.2016.4347

  View details for Web of Science ID 000395670800017

• Insufficient Evidence of Cimetidine Benefit in Protoporphyria-Reply. JAMA dermatology Teng, J. M., Tu, J. H. 2017; 153 (2): 238

  View details for DOI 10.1001/jamadermatol.2016.4050

  View details for PubMedID 30974455

• Use of topical sirolimus in the management of multiple familial trichoepitheliomas. Dermatologic therapy Tu, J. H., Teng, J. M. 2017

  Abstract

  The management of trichoepitheliomas is challenging, especially in children. This challenge is exemplified in patients with multiple trichoepitheliomas who present with progression of lesion count and size despite treatment with current strategies, including CO2 laser and surgery. We present the novel use of topical 1% sirolimus cream in two siblings with multiple facial trichoepitheliomas; one was treated with a combination of CO2 laser ablation and topical sirolimus, and the other was treated with topical sirolimus alone. Both siblings had a reduction in the growth of new lesions with no reported side effects. This is the first report demonstrating that topical sirolimus, either in combination with CO2 laser or alone, can be a promising treatment for trichoepitheliomas.

  View details for DOI 10.1111/dth.12458

  View details for PubMedID 28133868

• Urticaria and Angioedema Conn’s Current Therapy Teng, J. Elsevier. 2017: 977
• Therapy in Pediatric Dermatology-Management of Pediatric Skin Disease edited by Teng, J. M., Marqueling, A. L., Benjamine, L. Springer. 2017
• Risk Factors for Basal Cell Carcinoma Among Patients With Basal Cell Nevus Syndrome: Development of a Basal Cell Nevus Syndrome Patient Registry. JAMA dermatology Solis, D. C., Kwon, G. P., Ransohoff, K. J., Li, S., Chahal, H. S., Ally, M. S., Peters, M. A., Schmitt-Burr, K., Lindgren, J., Bailey-Healy, I., Teng, J. M., Epstein, E. H., Tang, J. Y. 2016

  Abstract

  Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood.To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs.Prospective clinical registry with data collected from September 2014 to March 2016. Participants were recruited from a mailing list of patients with BCNS at Children's Hospital Oakland Research Institute and Basal Cell Carcinoma Nevus Syndrome Life Support Network. Patients of all ages with a diagnosis of BCNS were eligible for enrollment. Participants completed a clinical questionnaire on their disease characteristics and risk factors.Number of BCCs in the past 2 years and over lifetime (disease burden), risk factors for BCCs.A consecutive sample of the first 141 participants was included (34% [100 of 297] response rate from paper survey, 23% [41 of 179] from online survey; 85 [60%] female; mean age at start of study, 53 [range, 8-83] years; 131 [93%] white). In the previous 2 years, participants reported a mean of 25 BCCs (median, 11; range, 0-250). Over their lifetime, participants reported a mean of 257 BCCs (median, 160; range, 0-2200). Univariate analysis identified age (odds ratio [OR], 1.05; 95% CI, 1.03-1.07; P < .001), number of sunburns (OR, 1.05; 95% CI, 1.00-1.10; P = .047), and history of radiation exposure (OR, 2.26; 95% CI, 1.02-5.03; P = .046) as potential risk factors for lifetime BCC severity. On multivariate analysis, only age (OR, 1.04; 95% CI, 1.02-1.07; P < .001) and number of sunburns (OR, 1.06; 95% CI, 1.00-1.11; P = .04) were statistically significant. In our adjusted models, BCC burden increased by 4% per year of age and by 6% per number of sunburns.Patients with BCNS have a high burden of BCCs. Age and number of sunburns were significantly associated with the severity of lifetime BCC. Further interventions to prevent and treat BCCs in patients with BCNS are needed.

  View details for DOI 10.1001/jamadermatol.2016.4347

  View details for PubMedID 27902821

• Direct-to-consumer teledermatology services for pediatric patients: Room for improvement. Journal of the American Academy of Dermatology Fogel, A. L., Teng, J., Sarin, K. Y. 2016; 75 (5): 887-888

  Abstract

  Direct-to-consumer teledermatology is radically changing the way some patients obtain dermatologic care. Many direct-to-consumer teledermatology services offer care to patients younger than 18 years, but policies and standards are nonuniform. For pediatric patients, direct-to-consumer teledermatology is a substantial departure from in-person care. More consensus, standards, and guidelines are necessary.

  View details for DOI 10.1016/j.jaad.2016.08.002

  View details for PubMedID 27614530

• Novel Treatment Using Cimetidine for Erythropoietic Protoporphyria in Children JAMA DERMATOLOGY Tu, J. H., Sheu, S. L., Teng, J. M. 2016; 152 (11): 1258-1261

  Abstract

  Erythropoietic protoporphyria (EPP) is a rare hereditary disease of heme biosynthesis that manifests as severe photosensitivity and hepatotoxicity. There have been no effective treatments to date. Cimetidine has been shown to inhibit heme biosynthesis and results in symptomatic improvement in patients with acute intermittent porphyria (AIP) and porphyria cutanea tarda (PCT). There is only 1 report in the literature describing the use of cimetidine in the effective treatment of an adult patient with EPP.To describe the successful use of cimetidine in pediatric patients with EPP.Retrospective medical record review carried out in a pediatric dermatology practice at an academic institution of patients diagnosed with EPP who were younger than 18 years and treated with systemic cimetidine in the past 3 years.Systemic cimetidine.Resolution of skin photodamage was evaluated on clinical examination. Subjective measures including tolerability to sun exposure, ability to participate in outdoor activities, and objective evaluation including serum erythrocyte protoporphyrin levels and liver function tests following treatment were assessed.All 3 cases reported a rapid reduction in photosensitivity within weeks following initiation of systemic therapy. Their skin photodamage were also improved or resolved completely on subsequent examination. Laboratory study results also revealed reduction in serum erythrocyte protoporphyrin levels and improved liver function. None of the patients have reported any adverse effects of the systemic treatment after more than 2 years of treatment.Children with EPP currently have limited therapeutic options and experience substantial disease impact on their quality of life. This is the first case series demonstrating that cimetidine, a readily available oral medication, can be a promising treatment for children with EPP.

  View details for DOI 10.1001/jamadermatol.2016.2303

  View details for Web of Science ID 000388234700016

  View details for PubMedID 27410690

• Cutaneous Malignancies in Pediatric Solid Organ Transplant Recipients PEDIATRIC DERMATOLOGY Fogel, A. L., Miyar, M., Teng, J. M. 2016; 33 (6): 585-593

  Abstract

  Pediatric organ transplant recipients (POTRs) are at risk of developing malignancies due to a combination of immunosuppression, impaired DNA damage repair, and infection with oncogenic viruses. The most commonly developed malignancies in this population are skin cancers, which include nonmelanoma skin cancer, melanoma, Kaposi's sarcoma, and anogenital carcinoma. The literature shows that skin cancers account for 13% to 55% of all cancers that occur after transplantation. Given the increasing number and life expectancy of POTRs, prevention and management of skin cancer in these patients is essential, but there is a substantial knowledge gap in our understanding of the differences in skin cancer development, prevention, and management between POTRs and adult organ transplant recipients (AOTRs), for whom more data are available. Substantial differences have been observed in the patterns of malignancy development between POTRs and AOTRs, and data specific to pediatric populations are needed. The objective of this review is to provide updated information on posttransplantation skin cancer development in POTRs, including epidemiologic research on transplant patients and disease development, medication management, surveillance, and education efforts.

  View details for DOI 10.1111/pde.12941

  View details for Web of Science ID 000389132200021

  View details for PubMedID 27470071

• Sclerotherapy for lymphatic malformations of the head and neck in the pediatric population. Journal of neurointerventional surgery Tu, J. H., Do, H. M., Patel, V., Yeom, K. W., Teng, J. M. 2016

  Abstract

  Sclerotherapy is one of the most commonly used minimally invasive interventions in the treatment of macrocystic lymphatic malformations (LMs). Several different sclerosing agents and injection protocols have been reported in the literature, each with varying degrees of success. The safety and efficacy of the treatments have not been evaluated comparatively in the pediatric population.Chart review of pediatric patients with macrocystic/mixed head and neck LMs who underwent sclerotherapy using OK-432, doxycycline, or ethanolamine oleate at Lucile Packard Children's Hospital at Stanford during 2000-2014. Clinical evaluation and radiographic imaging were reviewed to assess lesion characteristics and response to sclerotherapy following each treatment session. The post-intervention clinical response was categorized as excellent, good, fair, or poor.Among the 41 pediatric cases reviewed, 10 patients were treated with OK-432, 19 patients received doxycycline, and 12 patients received ethanolamine. In univariate analysis, different sclerosants had similar effectiveness after the first injection and final clinical outcome (p=0.5317). In multivariate analysis controlling for disease severity stage as well as disease characteristics (macrocystic vs mixed subtypes), different sclerosants also had similar effectiveness after the first injection (p=0.1192). Radiologic analysis indicated an 84.5% average volume reduction, with similar effectiveness between the different sclerosants (p=0.9910).In this series of LM cases treated at Stanford, we found that doxycycline, OK-432, and ethanolamine oleate sclerotherapy appear to have a similar safety and efficacy profile in the treatment of macrocystic and mixed LMs of the head and neck in the pediatric population.

  View details for DOI 10.1136/neurintsurg-2016-012660

  View details for PubMedID 27707871

• Advancement in management of epidermolysis bullosa. Current opinion in pediatrics Cohn, H. I., Teng, J. M. 2016; 28 (4): 507-516

  Abstract

  Epidermolysis bullosa is a hereditary skin disorder characterized by skin fragility. However, the disease can manifest in many different organ systems, therefore children born with epidermolysis bullosa may have life long, complex medical needs. In this review, we will use a system-based approach to highlight important aspects of disease management and recent advancements in each of the areas. In addition, we will overview some of the cutting edge therapeutic developments in epidermolysis bullosa.Recent advancements in supportive care of epidermolysis bullosa with focus on wound, pain, pruritus and nutrition status were discussed. Clinical surveillance and complication prevention are critical to improve clinical outcomes. Generalized epidermolysis bullosa is a systemic disease with increased morbidity and mortality; therefore, complex care using a multidisciplinary approach will provide the greatest benefits for patients. Current targeted treatments for epidermolysis bullosa aim at restoring the skin integrity using protein, cell, and gene therapies.Improvement in care of epidermolysis bullosa in recent years results from keen clinical observation, novel molecular targeting, and the embracement of translational research.

  View details for DOI 10.1097/MOP.0000000000000380

  View details for PubMedID 27386970

• The burden of illness in patients with basal cell nevus syndrome: United States patient registry experience Solis, D. C., Kwon, G., Ransohoff, K. J., Chahal, H. S., Lindgren, J. A., Li, S., Ally, M. S., Peters, M., Teng, J., Burr, K., Epstein, E., Tang, J. ELSEVIER SCIENCE INC. 2016: B5

  View details for DOI 10.1016/j.jid.2016.05.026

  View details for Web of Science ID 000380585200024

• Pediatric dermatology: advancement in management and targeted therapy. Current opinion in pediatrics Teng, J. M. 2016; 28 (4): 454-455

  View details for DOI 10.1097/MOP.0000000000000385

  View details for PubMedID 27386967

• RASA1 somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome. American journal of medical genetics. Part A Macmurdo, C. F., Wooderchak-Donahue, W., Bayrak-Toydemir, P., Le, J., Wallenstein, M. B., Milla, C., Teng, J. M., Bernstein, J. A., Stevenson, D. A. 2016; 170 (6): 1450-1454

  Abstract

  Germline mutations in RASA1 are associated with capillary malformation-arteriovenous malformation (CM-AVM) syndrome. CM-AVM syndrome is characterized by multi-focal capillary malformations and arteriovenous malformations. Lymphatic anomalies have been proposed as part of the phenotype. Intrafamilial variability has been reported, suggesting modifiers and somatic events. The objective of the study was to identify somatic RASA1 "second hits" from vascular malformations associated with CM-AVM syndrome, and describe phenotypic variability. Participants were examined and phenotyped. Genomic DNA was extracted from peripheral blood on all participants. Whole-exome sequencing was performed on the proband. Using Sanger sequencing, RASA1 exon 8 was PCR-amplified to track the c.1248T>G, p.Tyr416X germline variant through the family. A skin biopsy of a capillary malformation from the proband's mother was also obtained, and next-generation sequencing was performed on DNA from the affected tissue. A familial germline heterozygous novel pathogenic RASA1 variant, c.1248T>G (p.Tyr416X), was identified in the proband and her mother. The proband had capillary malformations, chylothorax, lymphedema, and overgrowth, while her affected mother had only isolated capillary malformations. Sequence analysis of DNA extracted from a skin biopsy of a capillary malformation of the affected mother showed a second RASA1 somatic mutation (c.2245C>T, p.Arg749X). These results and the extreme variable expressivity support the hypothesis that somatic "second hits" are required for the development of vascular anomalies associated with CM-AVM syndrome. In addition, the phenotypes of the affected individuals further clarify that lymphatic manifestations are also part of the phenotypic spectrum of RASA1-related disorders. © 2016 Wiley Periodicals, Inc.

  View details for DOI 10.1002/ajmg.a.37613

  View details for PubMedID 26969842

• Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature AMERICAN JOURNAL OF DERMATOPATHOLOGY Rahvar, M., Teng, J., Kim, J. 2016; 38 (5): E60-E63

  Abstract

  Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder characterized by hyalinizing fibrosis of the skin and internal organs. Clinical features include multiple papular skin lesions, gingival hyperplasia, joint contractures, and osteolytic bone lesions. The systemic variant of JHF, known as infantile systemic hyalinosis (ISH), has an early onset and poor prognosis. Histological examination of cutaneous lesions shows bland-appearing fibroblasts within amorphous eosinophilic hyaline depositions. JHF and infantile systemic hyalinosis form a clinical spectrum with higher mortality that is typically observed in systemic cases. Here, the authors present a case of systemic hyalinosis with a heterozygous mutation in CMG2 that resulted in improved survival.

  View details for Web of Science ID 000374832500003

  View details for PubMedID 26885603

• An unclassified syndrome of craniosynostosis and features of premature aging and ectodermal dysplasia in the setting of a ZAK mutation Tu, J. H., Teng, J. ELSEVIER SCIENCE INC. 2016: S65

  View details for DOI 10.1016/j.jid.2016.02.397

  View details for Web of Science ID 000380028800364

• Postzygotic mutations in the actin gene ACTB causes Becker's nevus and Becker's nevus syndrome Cai, E., Rieger, K., Rogers, A., Bernet, L., Teng, J., Sun, B., Tang, J., Lee, A., Fry, M., Ting, F., Wang, G., Sarin, K. ELSEVIER SCIENCE INC. 2016: S72

  View details for DOI 10.1016/j.jid.2016.02.440

  View details for Web of Science ID 000380028800406

• Social Media Use in Pediatric Dermatology PEDIATRIC DERMATOLOGY Fogel, A. L., Teng, J. M. 2016; 33 (2): E131-E133

  Abstract

  Social media is predicted to become increasingly important in dermatology because of its potential to serve as a platform for public health campaigns, aid in participant recruitment for clinical trials, increase public engagement in health care, and facilitate scientific discourse. No study of social media use in pediatric dermatology has been performed, so we analyzed the use of the seven leading social media platforms in pediatric dermatology, with a focus on patient advocacy groups, professional societies, research journals, and research institutions. We observed that 89% of patient advocacy groups, 100% of professional societies, 62.5% of research journals, and 0% of academic pediatric dermatology departments maintained one or more social media accounts. Our observations suggest that all stakeholder groups, and in particular members of the research community, have the potential to further their engagement, connections, and communications through social media.

  View details for DOI 10.1111/pde.12763

  View details for Web of Science ID 000373067800025

• Acantholytic Dyskeratotic Epidermal Nevus. JAMA dermatology Akinshemoyin Vaughn, O., Hinshaw, M. A., Teng, J. M. 2015; 151 (11): 1259-1260

  View details for DOI 10.1001/jamadermatol.2015.1663

  View details for PubMedID 26131939

• A Survey to Assess Perceived Differences in Referral Pathways to Board-Certified Pediatric Dermatologists PEDIATRIC DERMATOLOGY Fogel, A. L., Teng, J. M. 2015; 32 (6)

  Abstract

  This study surveyed all U.S. board-certified pediatric dermatologists to determine referral pathways to the specialty; we obtained a 48% (108/226) response rate. Significantly higher self-referral rates were found in private practice than in academic settings, and higher referral rates from specialist and generalist physicians were observed in academic practice. The substantial differences found in this preliminary study indicate that triage inefficiency may be occurring, and further study to investigate the causes for referral differences and their effect on clinical outcomes is needed.

  View details for DOI 10.1111/pde.12703

  View details for Web of Science ID 000365526000026

  View details for PubMedID 26446294

• The US Pediatric Dermatology Workforce: An Assessment of Productivity and Practice Patterns PEDIATRIC DERMATOLOGY Fogel, A. L., Teng, J. M. 2015; 32 (6): 825-829

  Abstract

  Pediatric dermatology has always played an important role in children's healthcare, but there has been a shortage of pediatric dermatologists nationwide for more than a decade, and few metrics of productivity and practice patterns exist. This study sought to provide insight into these and other factors of the pediatric dermatology workforce.Electronic surveys were distributed to all 226 U.S. board-certified pediatric dermatologists.A total of 108/226 (48%) of the electronic surveys were returned. Sixty percent of respondents were employed full- or part-time in academic environments and 81% were salaried. Respondents reported that children constituted 79.5% of their practice, and the average respondent spent 3.8 days/week treating 92.6 patients, considerably lower than the 136.3 patients/week that the average general dermatologist sees. The academic practice environment was associated with children constituting a larger proportion of the practice (p < 0.001), fewer patients seen per week (85.9, p < 0.001), and longer median new patient wait times (60 vs 15 days) than in other practice environments. Private practitioners saw significantly more patients per week than those in academic environments (112.7, p = 0.005). Male and female practitioners reported approximately equal patient care days per week, similar wait times, and similar proportions of children in their practices.This assessment revealed productivity and practice pattern differences between the various pediatric dermatology practice environments and between pediatric and general dermatology. This study provides important information for workforce planning and care availability assessments and baseline information for future studies.

  View details for DOI 10.1111/pde.12680

  View details for Web of Science ID 000365526000042

  View details for PubMedID 26391633

• A Survey to Assess Perceived Differences in Referral Pathways to Board-Certified Pediatric Dermatologists. Pediatric dermatology Fogel, A. L., Teng, J. M. 2015; 32 (6): e314-315

  Abstract

  This study surveyed all U.S. board-certified pediatric dermatologists to determine referral pathways to the specialty; we obtained a 48% (108/226) response rate. Significantly higher self-referral rates were found in private practice than in academic settings, and higher referral rates from specialist and generalist physicians were observed in academic practice. The substantial differences found in this preliminary study indicate that triage inefficiency may be occurring, and further study to investigate the causes for referral differences and their effect on clinical outcomes is needed.

  View details for DOI 10.1111/pde.12703

  View details for PubMedID 26446294

• Pediatric Lichen Sclerosus: A Review of the Epidemiology and Treatment Options. Pediatric dermatology Tong, L. X., Sun, G. S., Teng, J. M. 2015; 32 (5): 593-599

  Abstract

  Lichen sclerosus (LS) is a rare, chronic, inflammatory disease of the skin that primarily affects postmenopausal women but may occur in men and children as well. Approximately 7% to 15% of cases are believed to occur in children. The epidemiologic data for LS have been limited and treatment options are not well studied, particularly in children. We reviewed new developments available in the current literature on the epidemiology and management of LS for children.

  View details for DOI 10.1111/pde.12615

  View details for PubMedID 25940739

• Treatment of complex periorbital venolymphatic malformation in a neonate with a combination therapy of sirolimus and prednisolone. Dermatologic therapy Kim, D., Benjamin, L., Wysong, A., Hovsepian, D., Teng, J. 2015; 28 (4): 218-221

  Abstract

  Venolymphatic malformations (VLMs) are vascular anomalies consisting of both veins and lymph vessels. A 2-week-old newborn presented with large VLMs on the left forehead, temple, preauricular area, and orbit. Patient was at imminent risk for permanent vision loss due to a localized mass effect. Surgical excision or debulking was contraindicated due to its complexity and proximity to the left eye, and the patient failed to respond to the sildenafil treatment and sclerotherapy. Patient was subsequently started on oral sirolimus 0.8 mg/m(2) twice daily in combination with prednisolone 2 mg/kg daily. The patient had an excellent therapeutic outcome for 7 months with complete preservation of vision before treatment was discontinued. However, 2 months after the medical treatments were discontinued, her VLM rebounded. She responded to the combination therapy again after a failed treatment with the mTOR inhibitor alone. This case demonstrates that the sirolimus and prednisolone combination therapy could be beneficial for treatment of complex VLM intractable to other treatments.

  View details for DOI 10.1111/dth.12208

  View details for PubMedID 25753853

• Advances in the therapeutic use of mammalian target of rapamycin (mTOR) inhibitors in dermatology JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Fogel, A. L., Hill, S., Teng, J. M. 2015; 72 (5): 879-889

  Abstract

  Significant developments in the use of mammalian target of rapamycin (mTOR) inhibitors (mTORIs) as immunosuppressant and antiproliferative agents have been made. Recent advances in the understanding of the mTOR signaling pathway and its downstream effects on tumorigenesis and vascular proliferation have broadened the clinical applications of mTORIs in many challenging disorders such as tuberous sclerosis complex, pachyonychia congenita, complex vascular anomalies, and inflammatory dermatoses. Systemic mTORI therapy has shown benefits in these areas, but is associated with significant side effects that sometimes necessitate drug holidays. To mitigate the side effects of systemic mTORIs for dermatologic applications, preliminary work to assess the potential of percutaneous therapy has been performed, and the evidence suggests that percutaneous delivery of mTORIs may allow for effective long-term therapy while avoiding systemic toxicities. Additional large placebo-controlled, double-blinded, randomized studies are needed to assess the efficacy, safety, duration, and tolerability of topical treatments. The objective of this review is to provide updated information on the novel use of mTORIs in the management of many cutaneous disorders.

  View details for DOI 10.1016/j.jaad.2015.01.014

  View details for Web of Science ID 000353118400028

  View details for PubMedID 25769191

• Pediatric Teledermatology: A Survey of Usage, Perspectives, and Practice PEDIATRIC DERMATOLOGY Fogel, A. L., Teng, J. M. 2015; 32 (3): 363-368

  Abstract

  Pediatric dermatology is one of the smallest subspecialties, and expanding the availability of care is of great interest. Teledermatology has been proposed as a way to expand access and improve care delivery, but no current assessment of pediatric teledermatology exists. The objective of the current study was to assess usage and perspectives on pediatric teledermatology. Surveys were distributed electronically to all 226 board-certified U.S. pediatric dermatologists; 44% (100/226) responded. Nearly all respondents (89%) have experience with teledermatology. Formal teledermatology reimbursement success rates have increased to 35%. Respondents were positive about teledermatology's present and future prospects, and 41% want to use teledermatology more often, although they viewed teledermatology as somewhat inferior to in-person care regarding accuracy of diagnosis and appropriation of management plans. Significant differences were found between formal teledermatology users and nonusers in salary structure, practice environment, sex, and region. Substantial increases in pediatric teledermatology have occurred in the last 5 to 10 years, and there remains cause for optimism for teledermatology's future. Concerns about diagnostic confidence and care quality indicate that teledermatology may be best for care of patients with characteristic clinical presentations or management of patients with established diagnoses.

  View details for DOI 10.1111/pde.12533

  View details for Web of Science ID 000354820500035

  View details for PubMedID 25691131

• A survey of the US pediatric dermatology workforce: Practice patterns and productivity Fogel, A., Teng, J. MOSBY-ELSEVIER. 2015: AB197

  View details for Web of Science ID 000360942901504

• Serving the underserved: Medicaid acceptance by US board-certified pediatric dermatologists Fogel, A., Teng, J. MOSBY-ELSEVIER. 2015: AB203

  View details for Web of Science ID 000360942901526

• Treatment of keratitis-ichthyosis-deafness (KID) syndrome in children: a case report and review of the literature DERMATOLOGIC THERAPY Patel, V., Sun, G., Dickman, M., Phuong Khuu, P., Teng, J. M. 2015; 28 (2): 89-93

  Abstract

  Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern especially in children. We report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented.

  View details for DOI 10.1111/dth.12192

  View details for Web of Science ID 000352630800010

• Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. Dermatologic therapy Patel, V., Sun, G., Dickman, M., Khuu, P., Teng, J. M. 2015; 28 (2): 89-93

  Abstract

  Keratitis-ichthyosis-deafness (KID) syndrome is a rare hereditary cornification disorder resulting from mutations in connexin 26, a protein important for intercellular communication. In addition to the characteristic clinical triad of congenital bilateral sensorineural hearing loss, keratitis, and erythrokeratoderma, affected individuals also suffer from chronic bacterial and fungal infections and have an increased risk of benign and malignant cutaneous tumors. Treatments with antibiotics, antifungals, and systemic retinoids have been reported with variable response. Ocular and skeletal toxicity from prolonged exposure to systemic retinoids is a major concern especially in children. We report a case of a 7-year-old boy with KID syndrome complicated by frequent infections who responded well to acitretin 0.5-1.0 mg/kg/day. The patient had significant improvement of the hyperkeratosis on the scalp, trunk, and extremities within 4 weeks after initiating treatment. The patient has been on treatment for over a year without notable ocular, skeletal, or laboratory side effects. A review of the literature focusing on therapeutic options for KID syndrome and concerns about safety and tolerability is presented.

  View details for DOI 10.1111/dth.12192

  View details for PubMedID 25546246

• Medicaid acceptance among pediatric dermatologists JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Fogel, A. L., Teng, J. M. 2015; 72 (1): 191-193

  View details for DOI 10.1016/j.jaad.2014.09.034

  View details for Web of Science ID 000346404500054

  View details for PubMedID 25497924

• Non-Melanoma Skin Cancer: Dermatofibrosarcoma Abeloff’s Clinical Oncology Teng, J. 2015; 5
• Scabies infection in a neonate. journal of pediatrics Kim, D., Teng, J. 2014; 165 (6): 1266-1266 e1

  View details for DOI 10.1016/j.jpeds.2014.07.061

  View details for PubMedID 25217198

• Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) Conference JOURNAL OF INVESTIGATIVE DERMATOLOGY Siegel, D. H., Choate, K. A., Drolet, B. A., Frieden, I. J., Rittenberg, S., Teng, J. M., Tom, W. L., Williams, M. L., Eichenfield, L. F., Paller, A. S. 2014; 134 (11): 2671-2674

  View details for DOI 10.1038/jid.2014.227

  View details for Web of Science ID 000343271200003

  View details for PubMedCentralID PMC4350365

• Channelopathy: a novel mutation in the SCN9A gene causes insensitivity to pain and autonomic dysregulation BRITISH JOURNAL OF DERMATOLOGY Bartholomew, F., Lazar, J., Marqueling, A., Lee-Messer, C., Jaradeh, S., Teng, J. M. 2014; 171 (5): 1268-1270

  View details for DOI 10.1111/bjd.13096

  View details for Web of Science ID 000346600000038

  View details for PubMedID 24813348

• Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) conference. journal of investigative dermatology Siegel, D. H., Choate, K. A., Drolet, B. A., Frieden, I. J., Rittenberg, S., Teng, J. M., Tom, W. L., Williams, M. L., Eichenfield, L. F., Paller, A. S. 2014; 134 (11): 2671-2674

  View details for DOI 10.1038/jid.2014.227

  View details for PubMedID 25318428

  View details for PubMedCentralID PMC4350365

• Dermatologic and Dental Aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements JAMA DERMATOLOGY Teng, J. M., Cowen, E. W., Wataya-Kaneda, M., Gosnell, E. S., Witman, P. M., Hebert, A. A., Mlynarczyk, G., Soltani, K., Darling, T. N. 2014; 150 (10): 1095-1101

  Abstract

  The 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference was convened to update the last consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes.To detail recommendations for the diagnosis, surveillance, and management of skin and dental lesions in TSC.The TSC Dermatology and Dentistry Subcommittee, 1 of 12 subcommittees, reviewed the relevant literature from 1997 to 2012.A consensus on skin and dental issues was achieved within the Dermatology and Dentistry Subcommittee before recommendations were presented, discussed, and agreed on in a group meeting of all subcommittees from June 14 to 15, 2012.Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

  View details for DOI 10.1001/jamadermatol.2014.938

  View details for Web of Science ID 000345274000013

• Dermatologic and dental aspects of the 2012 International Tuberous Sclerosis Complex Consensus Statements. JAMA dermatology Teng, J. M., Cowen, E. W., Wataya-Kaneda, M., Gosnell, E. S., Witman, P. M., Hebert, A. A., Mlynarczyk, G., Soltani, K., Darling, T. N. 2014; 150 (10): 1095-1101

  Abstract

  The 2012 International Tuberous Sclerosis Complex Clinical Consensus Conference was convened to update the last consensus statement in 1998. Skin and dental lesions are common in tuberous sclerosis complex (TSC) and are a frequent concern for patients. Recognition of these lesions is imperative for early diagnosis, given the treatment advances that may improve patient outcomes.To detail recommendations for the diagnosis, surveillance, and management of skin and dental lesions in TSC.The TSC Dermatology and Dentistry Subcommittee, 1 of 12 subcommittees, reviewed the relevant literature from 1997 to 2012.A consensus on skin and dental issues was achieved within the Dermatology and Dentistry Subcommittee before recommendations were presented, discussed, and agreed on in a group meeting of all subcommittees from June 14 to 15, 2012.Skin and dental findings comprise 4 of 11 major features and 3 of 6 minor features in the diagnostic criteria. A definite diagnosis of TSC is defined as the presence of at least 2 major features or 1 major and 2 or more minor features; in addition, a pathological mutation in TSC1 or TSC2 is diagnostic. Skin and oral examinations should be performed annually and every 3 to 6 months, respectively. Intervention may be indicated for TSC skin or oral lesions that are bleeding, symptomatic, disfiguring, or negatively affecting function. Options presented include surgical excision, laser(s), or use of a mammalian target of rapamycin inhibitor.

  View details for DOI 10.1001/jamadermatol.2014.938

  View details for PubMedID 25029267

• An open-label study to evaluate sildenafil for the treatment of lymphatic malformations. Journal of the American Academy of Dermatology Danial, C., Tichy, A. L., Tariq, U., Swetman, G. L., Khuu, P., Leung, T. H., Benjamin, L., Teng, J., Vasanawala, S. S., Lane, A. T. 2014; 70 (6): 1050-1057

  Abstract

  Lymphatic malformations can be challenging to treat. Mainstay interventions including surgery and sclerotherapy are invasive and can result in local recurrence and complications.We sought to assess the effect of 20 weeks of oral sildenafil on reducing lymphatic malformation volume and symptoms in children.Seven children (4 boys, 3 girls; ages 13-85 months) with lymphatic malformations were given oral sildenafil for 20 weeks in this open-label study. The volume of the lymphatic malformation was calculated blindly using magnetic resonance imaging performed before and after 20 weeks of sildenafil. Lymphatic malformations were assessed clinically on weeks 4, 12, 20, and 32. Both the physician and parents evaluated the lymphatic malformation in comparison with baseline.Four subjects had a lymphatic malformation volume decrease (1.0%-31.7%). In 2 subjects, despite a lymphatic malformation volume increase (1.1%-3.7%), clinical improvement was noted while on sildenafil. One subject had a 29.6% increase in lymphatic malformation volume and no therapeutic response. Lymphatic malformations of all 6 subjects who experienced a therapeutic response on sildenafil softened and became easily compressible. Adverse events were minimal.A randomized controlled trial will be necessary to verify the effects of sildenafil on lymphatic malformations.Sildenafil can reduce lymphatic malformation volume and symptoms in some children.

  View details for DOI 10.1016/j.jaad.2014.02.005

  View details for PubMedID 24656411

• Xanthoma striatum palmare associated with nonsyndromic paucity of the interlobular bile ducts. Cutis Fett, N., Teng, J. M. 2014; 93 (5): E6-8

  View details for PubMedID 24897150

• Access to pediatric dermatology in California: A specialty in severe shortage Fogel, A. L., Teng, J. MOSBY-ELSEVIER. 2014: AB142

  View details for Web of Science ID 000360583900559

• Somatic HRAS p.G12S Mutation Causes Woolly Hair and Epidermal Nevi JOURNAL OF INVESTIGATIVE DERMATOLOGY Levinsohn, J. L., Teng, J., Craiglow, B. G., Loring, E. C., Burrow, T. A., Mane, S. S., Overton, J. D., Lifton, R. P., McNiff, J. M., Lucky, A. W., Choate, K. A. 2014; 134 (4): 1149-1152

  View details for DOI 10.1038/jid.2013.430

  View details for Web of Science ID 000333197500042

  View details for PubMedID 24129065

  View details for PubMedCentralID PMC3961553

• Nonsense Mediated mRNA Decay Mediates the Loss Of IKr in LQT2 Patient-Derived iPS-Cardiomyocytes With W1001X-KCNH2 Balijepalli, S. Y., Zhang, J., Tao, R., Gong, Q., Wang, W. B., Maginot, K. R., Eckhardt, L., Orland, K. M., Teng, J., Ackerman, M. J., Makielski, J. C., Thomson, J. A., Zhou, Z., Kamp, T. J., January, C. T. LIPPINCOTT WILLIAMS & WILKINS. 2013

  View details for Web of Science ID 000332162904194

• An investigational study to evaluate sildenafil for the treatment of lymphatic malformations International Investigative Dermatology Meeting Danial, C., Tichy, A., Tariq, U., Swetman, G. L., Khuu, P., Leung, T., Teng, J., VASANAWALA, S., Lane, A. NATURE PUBLISHING GROUP. 2013: S175–S175

  View details for Web of Science ID 000317698901320

• Familial Urticaria Pigmentosa: Report of a Family and Review of the Role of KIT Mutations AMERICAN JOURNAL OF DERMATOPATHOLOGY Fett, N. M., Teng, J., Longley, B. J. 2013; 35 (1): 113-116

  Abstract

  Cutaneous mastocytosis is a rare clinically heterogeneous disorder characterized by mast cell infiltration. Mastocytosis affects both children and adults and has been reported to occur in families. Recent data suggest that mutations in the c-kit proto-oncogene are causative of mastocytosis not only in adults but in children and familial cases as well; however, mutation analysis other than D816V is not widely available, making detection of causative mutations problematic. We present the case of a 33-year-old man with a 30-year history of persistent urticaria pigmentosa and his 2 affected children. Sequencing of KIT exons 8, 10, 11, and 17 was carried out on a skin biopsy specimen and mucosal swabs of the incident case and was negative for known KIT mutations. Additional work-up was deferred by the family. Presentation of this familial case of urticaria pigmentosa demonstrates the complexity of genetic evaluation in clinical settings. It suggests that mutations other than those reported in exons 8, 10, 11, and 17 may also result in familial mastocytosis. Presentation of this case also allows for review of the mechanism of action of causative KIT mutations and the recent literature supporting KIT mutations in childhood and familial mastocytosis.

  View details for DOI 10.1097/DAD.0b013e31826330bf

  View details for Web of Science ID 000314103600024

  View details for PubMedID 22892471

• Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatric Neurology Northrup, H., Krueger, D., International Tuberous Sclerosis Complex Consensus Group. 2013; 49 (4): 243-54.
• Tuberous sclerosis complex surveillance and management: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatric Neurology Krueger, D., Northrup, H., International Tuberous Sclerosis Complex Consensus Group. 2013; 49 (4): 255-65
• Dermatofibrosarcoma Protuberans in Children: an Update on the Diagnosis and Treatment PEDIATRIC DERMATOLOGY Kornik, R. I., Muchard, L. K., Teng, J. M. 2012; 29 (6): 707-713

  Abstract

  Dermatofibrosarcoma protuberans (DFSP) is a fibrohistiocytic tumor of low grade malignant potential. Although rare, pediatric cases pose a particular challenge in diagnosis and management. In children, the clinical appearance may be heterogeneous and a high index of suspicion is necessary to avoid delays in diagnosis which can lead to further morbidity. Histologic examination, often with the use of appropriate immunostains, is necessary for diagnosis. Advances in the understanding of the molecular genetics of DFSP have led to further diagnostic and therapeutic modalities. DFSP is thought to result from a translocation between platelet-derived growth factor beta (PDGFB, 22q13.1) and type 1 collagen (COL1A1, 17q21≈22) leading to a fusion protein (PDGFB) which stimulates the PDGF receptor. Detection of this translocation in tissue via PCR or fluorescence in situ hybridization (FISH) can be helpful in difficult cases. While surgery with wide local excision or Mohs micrographic surgery is the mainstay of treatment, the use of targeted therapy with imatanib mesylate shows promise in large or unresectable tumors. Knowledge of the clinical features, histology, genetics, and treatment options is important for successful management of these tumors.

  View details for DOI 10.1111/j.1525-1470.2012.01767.x

  View details for Web of Science ID 000310565500001

  View details for PubMedID 22780227

• Effective Topical Combination Therapy for Treatment of Lichen Striatus in Children: A Case Series and Review JOURNAL OF DRUGS IN DERMATOLOGY Youssef, S. M., Teng, J. M. 2012; 11 (7): 872-875

  Abstract

  Lichen striatus (LS) is an uncommon linear dermatosis that is primarily seen in children from 4 months to 15 years of age. While some of these eruptions are asymptomatic, others can be quite pruritic. In darker-skinned individuals, post-inflammatory hypopigmentation can be significant and may provide a cause for concern for the patients and/or their parents. In our case series of 4 patients, we observed rapid resolution of LS by combining a topical retinoid with a topical steroid. To our knowledge, this is the first report of successful treatment with this kind of combination therapy in the English literature. The patients not only achieved satisfying cosmesis, but also complete resolution of their pruritus. The most common side effect of topical tazarotene is localized irritation at treatment sites, but the patients in this particular series tolerated the treatment well.

  View details for Web of Science ID 000306164100018

  View details for PubMedID 22777233

• Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise EXPERIMENTAL DERMATOLOGY Chamcheu, J. C., Wood, G. S., Siddiqui, I. A., Syed, D. N., Adhami, V. M., Teng, J. M., Mukhtar, H. 2012; 21 (7): 481-489

  Abstract

  Hereditary keratin disorders of the skin and its appendages comprise a large group of clinically heterogeneous disfiguring blistering and ichthyotic diseases, primarily characterized by the loss of tissue integrity, blistering and hyperkeratosis in severely affected tissues. Pathogenic mutations in keratins cause these afflictions. Typically, these mutations in concert with characteristic features have formed the basis for improved disease diagnosis, prognosis and most recently therapy development. Examples include epidermolysis bullosa simplex, keratinopathic ichthyosis, pachyonychia congenita and several other tissue-specific hereditary keratinopathies. Understanding the molecular and genetic events underlying skin dysfunction has initiated alternative treatment approaches that may provide novel therapeutic opportunities for affected patients. Animal and in vitro disease modelling studies have shed more light on molecular pathogenesis, further defining the role of keratins in disease processes and promoting the translational development of new gene and pharmacological therapeutic strategies. Given that the molecular basis for these monogenic disorders is well established, gene therapy and drug discovery targeting pharmacological compounds with the ability to reinforce the compromised cytoskeleton may lead to promising new therapeutic strategies for treating hereditary keratinopathies. In this review, we will summarize and discuss recent advances in the preclinical and clinical modelling and development of gene, natural product, pharmacological and protein-based therapies for these disorders, highlighting the feasibility of new approaches for translational clinical therapy.

  View details for DOI 10.1111/j.1600-0625.2012.01534.x

  View details for Web of Science ID 000305508500001

  View details for PubMedID 22716242

• Treatment of Recalcitrant Excessive Granulation Tissue with Photodynamic Therapy in an Eight-Year-Old Patient with Focal Dermal Hypoplasia Syndrome PEDIATRIC DERMATOLOGY Liu, J., Hsu, P. T., Vanderwielen, B. A., Teng, J. M. 2012; 29 (3): 324-326

  Abstract

  We report a pediatric patient with focal dermal hypoplasia syndrome who developed painful excessive granulation tissue refractory to traditional medical and surgical therapies. Complete response was achieved rapidly with a combination of photodynamic therapy and intralesional steroid injections. The patient has remained in remission for longer than a year.

  View details for DOI 10.1111/j.1525-1470.2011.01436.x

  View details for Web of Science ID 000304139900018

  View details for PubMedID 21995324

• Chemically defined conditions for human iPSC derivation and culture NATURE METHODS Chen, G., Gulbranson, D. R., Hou, Z., Bolin, J. M., Ruotti, V., Probasco, M. D., Smuga-Otto, K., Howden, S. E., Diol, N. R., Propson, N. E., Wagner, R., Lee, G. O., Antosiewicz-Bourget, J., Teng, J. M., Thomson, J. A. 2011; 8 (5): 424-U76

  Abstract

  We re-examine the individual components for human embryonic stem cell (ESC) and induced pluripotent stem cell (iPSC) culture and formulate a cell culture system in which all protein reagents for liquid media, attachment surfaces and splitting are chemically defined. A major improvement is the lack of a serum albumin component, as variations in either animal- or human-sourced albumin batches have previously plagued human ESC and iPSC culture with inconsistencies. Using this new medium (E8) and vitronectin-coated surfaces, we demonstrate improved derivation efficiencies of vector-free human iPSCs with an episomal approach. This simplified E8 medium should facilitate both the research use and clinical applications of human ESCs and iPSCs and their derivatives, and should be applicable to other reprogramming methods.

  View details for DOI 10.1038/NMETH.1593

  View details for Web of Science ID 000289987100021

  View details for PubMedID 21478862

• THE EFFICACY AND SAFETY OF SUBCUTANEOUS (SC) ABATACEPT (ABA) IS CONSISTENT WITH THE ESTABLISHED INTRAVENOUS (IV) PROFILE IN A STUDY OF 1457 PATIENTS WITH RA AND AN INADEQUATE RESPONSE TO MTX (MTX-IR) Nash, P., Genovese, M., COVARRUBIAS, J., LEON, G., Mysler, E., Keiserman, M., Valante, R., Simon, J., PORAWSKA, W., Box, J., Leggerton, C., Nasonov, E., Durez, P., Aranda, R., Pappau, R., Delaet, I., Teng, J., Alten, R., Bamford, T. WILEY-BLACKWELL. 2011: 16–16

  View details for Web of Science ID 000290489900053

• A Case of Sclerodermatous Graft-versus-Host Disease Responsive to Imatinib Therapy PEDIATRIC DERMATOLOGY Lazar, J., Poonawalla, T., Teng, J. M. 2011; 28 (2): 172-175

  Abstract

  Sclerodermatous graft-versus-host disease (sGVHD) is a rare, late complication of hematopoietic cell transplantation. Classified as a variant of chronic graft-versus-host disease, sGVHD is thought to be predominantly an immune-mediated response characterized by aberrant T-cell function and dysregulation of tyrosine kinase cascades. Recently, the profibrotic cytokine transforming growth factor B and stimulatory autoantibodies against the platelet-derived growth factor receptor have been implicated in the pathogenesis of sGVHD. Treatment of sGVHD remains disappointing and largely limited by systemic side effects. Imatinib mesylate is a small molecule tyrosine kinase inhibitor that has been shown to selectively inhibit both the platelet-derived growth factor receptor and transforming growth factor-β signaling pathways. We report a case of sGVHD in a pediatric patient that was resistant to traditional therapy but showed improvement in cutaneous symptoms following daily treatment with 400 mg of imatinib mesylate. Due to its favorable side-effect profile, specificity for molecular pathways deranged in sGVHD and proven efficacy in other sclerodermoid diseases, imatinib mesylate is a promising new tool in the management of this challenging disease.

  View details for DOI 10.1111/j.1525-1470.2010.01301.x

  View details for Web of Science ID 000290381900017

  View details for PubMedID 21504445

• Lipoatrophic Panniculitis Case Report and Review of the Literature ARCHIVES OF DERMATOLOGY Shen, L. Y., Edmonson, M. B., Williams, G. P., Gottam, C. C., Hinshaw, M. A., Teng, J. M. 2010; 146 (8): 877-881

  Abstract

  Lipoatrophic panniculitis (LP) is a rare disease of childhood characterized by eruption of tender erythematous nodules and plaques followed by circumferential bands of lipoatrophy often seen on the arms and legs. This condition has also been known as lipophagic panniculitis of childhood, annular atrophy of the ankles, and partial lipodystrophy.A previously healthy 8-year-old boy was evaluated for tender, raised plaques on the ankles, which progressed to circumferential atrophy of the distal lower extremities. Biopsy specimen analysis revealed a dense mixed infiltrate extending into the subcutaneous tissue as well as lipophages within the fatty lobules. A diagnosis of LP was made, and the patient began treatment with prednisone and hydroxychloroquine. Methotrexate was added later to the regimen as a steroid-sparing agent, and the dose was increased over the course of 3 months, by which time the cutaneous disease progression was nearly halted. However, the patient continued to have lower leg pain with bone changes demonstrated on magnetic resonance imaging.We report this case and review of the literature to call attention to the clinical features of LP and its association with skeletal changes. Our patient's response to combination therapy is of interest and contributes to the limited literature about management of this disease.

  View details for Web of Science ID 000281249700010

  View details for PubMedID 20713820

• Topical Rapamycin A Novel Approach to Facial Angiofibromas in Tuberous Sclerosis ARCHIVES OF DERMATOLOGY Haemel, A. K., O'Brian, A. L., Teng, J. M. 2010; 146 (7): 715-718

  View details for Web of Science ID 000280088100002

  View details for PubMedID 20644030

• Rapid Improvement in Digital Ischemia and Acral Contracture in a Collodion Baby Treated With Topical Tazarotene JOURNAL OF DRUGS IN DERMATOLOGY Liu, R. H., Becker, B., Gunkel, J., Teng, J. 2010; 9 (6): 713-716

  Abstract

  Collodion baby is a rare congenital disorder whereby affected infants are born encased in a thick, taut, shiny, translucent membrane. The majority of babies with collodion membrane have associated disorders, most commonly nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. The authors report a case of collodion baby with rare complication of acral contracture, ischemia and nail dystrophy. Topical treatment with tazarotene 0.1% gel resulted in rapid improvement. The patient developed normal nail plates and full motor function in both hands and feet following treatment. To the authors' knowledge, this is the first report demonstrating the benefit of topical tazarotene for management of this rare condition in a neonate.

  View details for Web of Science ID 000278572400022

  View details for PubMedID 20645539

• Mohs Surgical Excision of a Granular Cell Tumor with Plexiform Features on the Arm of a 7-Year-Old Child DERMATOLOGIC SURGERY Youssef, S. M., Hinshaw, M., Longley, B. J., Snow, S., Teng, J. M. 2010; 36 (4): 546-550

  View details for DOI 10.1111/j.1524-4725.2010.01492.x

  View details for Web of Science ID 000276168500020

  View details for PubMedID 20187892

• The safety of Abatacept in patients with active rheumatoid arthritis and insufficient response to an anti-TNF treatment: Results of the ARRIVE study Rieger, H. J., Schiff, M., Pritchard, C., Teng, J., Bahrt, K., Genovese, M. SPRINGER HEIDELBERG. 2007: 26-27

  View details for Web of Science ID 000249687900069

• The safety of abatacept in patients with active rheumatoid arthritis and an inadequate response to anti-TNF therapy: Results from the arrive trial Schiff, M., Pritchard, C., Teng, J., Bahrt, K., Genovese, M. B M J PUBLISHING GROUP. 2007: 89

  View details for Web of Science ID 000253101100286

• Sweet's panniculitis associated with metastatic breast cancer JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY Teng, J. M., Draper, B. K., Boyd, A. S. 2007; 56 (2): S61-S62

  View details for DOI 10.1016/j.jaad.2006.05.023

  View details for Web of Science ID 000243982300023

  View details for PubMedID 17224394

• CD2-mediated activation of the Tec-family tyrosine kinase ITK is controlled by proline-rich stretch-4 of the CD2 cytoplasmic tail INTERNATIONAL IMMUNOLOGY King, P. D., Sadra, A., Teng, J. M., Bell, G. M., DuPont, B. 1998; 10 (7): 1009-1016

  Abstract

  Ligation of the CD2 co-stimulatory receptor on human T lymphocytes induces tyrosine phosphorylation and activation of the Tec-family tyrosine kinase, ITK. To examine whether any of several proline-rich (PR) stretches of the CD2 cytoplasmic tail are necessary for ITK activation we introduced wild-type and mutated versions of rat CD2, each missing at least one PR stretch of the tail, into human Jurkat T leukemia cells. The influence of cytoplasmic tail mutations was then studied following stimulation of transfectants with the rat CD2 mAb pair, OX54/OX55. As predicted, wild-type rat CD2 was able to activate ITK in Jurkat cells. In addition, a truncation mutant, lacking the most membrane-distal PR stretch, PR6, was able to activate ITK. By contrast, all other studied truncation mutants, each of which is missing at least PR4-PR6, were unable to induce ITK activation. Of deletion mutants, deletion of the membrane-proximal PR stretches, PR1-PR3, did not impair rat CD2-mediated ITK activation. However, additional deletion of PR4 from a tail missing PR1 and PR2, deletion of PR2 and PR4, and deletion of PR4 alone from rat CD2 abrogated an ability to activate ITK. Thus, these results identify PR4 as an element of the CD2 tail that is required for activation of ITK. Furthermore, we show that, unlike wild-type rat CD2, PR4-deleted rat CD2 is unable to induce IL-2 secretion from Jurkat cells. This is consistent with the view that PR4-mediated activation of ITK is important for downstream signaling events induced by CD2 co-stimulation.

  View details for Web of Science ID 000074974300017

  View details for PubMedID 9701039

• Analysis of CD28 cytoplasmic tail tyrosine residues as regulators and substrates for the protein tyrosine kinases, EMT and LCK JOURNAL OF IMMUNOLOGY King, P. D., Sadra, A., Teng, J. M., Liu, X. R., Han, A., Selvakumar, A., August, A., DuPont, B. 1997; 158 (2): 580-590

  Abstract

  The CD28 cell surface receptor provides an important costimulatory signal for T cells necessary for their response to Ag. Early events in CD28 signaling include recruitment and activation of phosphatidylinositol 3-kinase (PI3-kinase) and activation of the protein tyrosine kinases (PTKs), LCK and EMT. Recruitment and activation of PI3-kinase is known to be dependent upon phosphorylation of tyrosine 173 of the CD28 cytoplasmic tail contained within a YMNM motif. By contrast, little is known of which residues of the CD28 tail, including tyrosines, are required for the activation of PTKs. To address this we studied the ability of truncation mutants and tyrosine to phenylalanine substitution mutants of the CD28 cytoplasmic tail to activate LCK and EMT in Jurkat T leukemia cells. Our results indicate that 1) activation of EMT is partially dependent upon tyrosine 173 of the CD28 tail, although it does not require PI3-kinase activation; 2) activation of LCK is independent of CD28 cytoplasmic tail tyrosine residues; and 3) elements sufficient for the activation of both kinases are contained within the first half of the tail. In addition we studied the CD28 tail as a substrate for both PTKs in in vitro kinase assays. We demonstrate that EMT can phosphorylate all four tyrosines of the CD28 tail, in contrast to LCK, which phosphorylates only tyrosine 173. Together with evidence that in vivo, tyrosines other than tyrosine 173 become phosphorylated following CD28 stimulation, this finding suggests that, like LCK, one function of EMT during CD28 signaling is phosphorylation of the receptor.

  View details for Web of Science ID A1997WC63800007

  View details for PubMedID 8992971

• The Tec family tyrosine kinases BTK and ITK in lymphocyte development and activation 40th Symposium of the Alfred-Benzon-Foundation on HLA and Disease - the Molecular Basis DuPont, B., August, A., Teng, J. M., Sadra, A., King, P. D. MUNKSGAARD. 1997: 284–298

  View details for Web of Science ID A1997BJ08M00021

• Phosphorylation of each of the distal three tyrosines of the CD28 cytoplasmic tail is required for CD28-induced T cell IL-2 secretion. Tissue antigens Teng, J. M., King, P. D., Sadra, A., Liu, X., Han, A., Selvakumar, A., August, A., DuPont, B. 1996; 48 (4): 255-264

  Abstract

  Signaling by the CD28 T cell costimulatory receptor is known to involve recruitment and activation of phosphatidylinositol 3-kinase (PI3-kinase) which is dependent upon phosphorylation of tyrosine 173 of the CD28 cytoplasmic tail, present in a YMNM motif. However, whether this phosphorylation is required for CD28 costimulation and whether or not phosphorylation of any of the other three tyrosines of the CD28 cytoplasmic tail (tyrosines 188, 191 and 200) is also important for CD28 induced responses is unclear. To address this we examined the ability of chimeric receptors, consisting of the extracellular plus transmembrane membrane domain of human CD8 alpha linked to different mutated human CD28 cytoplasmic tails, to induce IL-2 secretion in Jurkat T leukemia cells in the presence of PMA and ionomycin. A receptor in which tyrosine 173 of the CD28 tail was mutated to phenylalanine was able to induce IL-2. By contrast, receptors which contained single tyrosine 188, 191 or 200 to phenylalanine substitutions were unable to induce IL-2. These results imply that in this system phosphorylation of tyrosine 173 and hence activation of PI3-kinase is not required for CD28 induced IL-2 secretion. Further, they imply that phosphorylation of each of tyrosines 188, 191 and 200 is necessary for this response. Despite an apparent requirement for phosphorylation of all three of these tyrosines, however, receptors which contain tyrosine only at positions 191 or 200 and a truncated receptor which does not contain tyrosine 200 induce normal IL-2. These last findings, therefore, illustrate the complexity of CD28 mediated activation signals.

  View details for PubMedID 8946678

• Phosphorylation of each of the distal three tyrosines of the CD28 cytoplasmic tail is required for CD28-induced T cell IL-2 secretion TISSUE ANTIGENS Teng, J. M., King, P. D., Sadra, A., Liu, X., Han, A., Selvakumar, A., August, A., DuPont, B. 1996; 48 (4-I): 255-264

  View details for Web of Science ID A1996VR92800003

• CD28-mediated cytotoxicity by the human leukemic NK cell line YT involves tyrosine phosphorylation, activation of phosphatidylinositol 3-kinase, and protein kinase C JOURNAL OF IMMUNOLOGY Teng, J. M., Liu, X. R., Mills, G. B., DuPont, B. 1996; 156 (9): 3222-3232

  Abstract

  The human leukemic cell line YT displays spontaneous cytotoxicity against CD80+ and/or CD86+ and ICAM-1+ target cells. In this work, we report that CD28-mediated cytotoxicity of YT involves tyrosine phosphorylation and activation of phosphatidylinositol (PI) 3-kinase, the Tec kinase Itk/Emt, and protein kinase C (PKC). YT mediates lysis of CD80+/CD86+ B lymphoblastoid cell lines and the murine mastocytoma p815 transfected with CD80 or CD86. The lysis was inhibited by two different Pi 3-kinase inhibitors, wortmannin and LY294002. The PKC inhibitors calphostin C and bisindolylmaleimide GF109203X also abolished YT-mediated cytotoxicity. Furthermore, exocytosis of cytolytic effector molecules was also inhibited by PI 3-kinase inhibitors and PKC inhibitors. PMA together with Ionomycin did not induce granule exocytosis or cytotoxicity by YT cells. Treatment of YT cells with PMA for up to 20 h, which depleted PMA-responsive PKC isoforms, had no effect on the CD28-mediated cytotoxicity. This cytotoxicity displayed by PMA-treated YT cells, however, could still be inhibited by Pi 3-kinase inhibitors and PKC inhibitors. Taken together, these results are consistent with a model in which activation of CD28 and LFA-1 induces tyrosine phosphorylation of the CD28 cytoplasmic domain, recruitment and activation of PI 3-kinase, as well as the Tec kinase Itk/Emt, and the activation of PMA-nonresponsive PKC isoenzymes. Activation of PI 3-kinase and PMA-nonresponsive PKC isoenzymes is shown to be involved directly in cytolytic granule release by YT cells.

  View details for Web of Science ID A1996UF74200018

  View details for PubMedID 8617944

• RESIDUES OUTSIDE OF THE HLA-A2 PEPTIDE-BINDING GROOVE CAN ABROGATE OR ENHANCE RECOGNITION OF INFLUENZA-VIRUS MATRIX PEPTIDE PULSED CELLS BY CYTOTOXIC T-LYMPHOCYTES MOLECULAR IMMUNOLOGY Teng, J. M., HOGAN, K. T. 1994; 31 (6): 445-457

  Abstract

  An examination of the crystal structure of HLA-A2.1 reveals two classes of residues on the class I MHC molecule that could affect CTL recognition: (1) those predicted to interact with the TCR directly; and (2) those that interact with bound peptides. To examine the role of individual TCR contacting residues, as well as residues not predicted to interact with bound peptide or the TCR, a panel of 28 HLA-A2 variants that differ from each other by a single amino acid substitution in either the alpha 1- or alpha 2-domain was utilized. Peptide titration, time course and cold target inhibition analysis of these targets showed that only the substitution of position 62 in the alpha 1-domain had a significant effect on recognition of the MHC-peptide complex by influenza matrix protein M1 (57-68) peptide-specific, HLA-A2.1-restricted CTL. In contrast, substitutions at positions 154, 162 and 163 in the alpha 2-domain abolished recognition by the same CTL. Additionally, substitutions at position 138 in the alpha 2-domain and positions 107 and 127 on the loops connecting the beta-strand in the alpha 2-domain were recognized in a more efficient, heteroclitic fashion. Overall, there was no direct correlation between the level of peptide binding to the variants and the level of T cell recognition of the variants. These results indicate that residues in the alpha 2-domain may be more important than residues in the alpha 1-domain in controlling TCR binding to the class I MHC molecule and suggest that the "footprint" of the TCR may be more extensive than previously predicted and encompass a broad region that extends beyond the alpha 2-helix. These findings also imply that the class I MHC molecule may exist in a "tipped" orientation on the cell surface during T cell recognition.

  View details for Web of Science ID A1994NK03000005

  View details for PubMedID 8183283

• BOTH MAJOR AND MINOR PEPTIDE-BINDING POCKETS IN HLA-A2 INFLUENCE THE PRESENTATION OF INFLUENZA-VIRUS MATRIX PEPTIDE TO CYTOTOXIC T-LYMPHOCYTES MOLECULAR IMMUNOLOGY Teng, J. M., HOGAN, K. T. 1994; 31 (6): 459-470

  Abstract

  Most of the polymorphic residues in class I MHC molecules are concentrated in the alpha 1- and alpha 2-domains with their side chains pointing towards the antigen peptide site. Previous crystal structure analysis revealed six pockets inside the peptide-binding groove and the "extra" electron density in some of the pockets indicated that the pockets are involved in direct peptide binding. In order to investigate the functional role of individual positions from each pocket in antigen presentation, 37 HLA-A2 variants with single amino acid substitution in the peptide-binding groove were generated and used to analyse the specificity of influenza A virus matrix peptide-specific, HLA-A2-restricted CTL. The ability to present peptide by each variant was studied in detail by peptide titration, cold target inhibition, time course and limiting dilution analysis. The direct effect on peptide binding by these substitutions was determined by cell surface class I MHC molecule reconstitution analysis. The results demonstrated that each of the six peptide binding pockets plays a role in T cell recognition. Substitutions introduced into pocket F had less effect on CTL recognition than substitutions introduced in other pockets. With the exception of Tyr substitution for Phe9, single amino acid substitutions in the peptide-binding groove had only minor effects on peptide binding. Therefore, the impact of the substitutions in altering the epitopes recognized by CTL seems to be mediated through an alteration in the conformation of the bound peptide.

  View details for Web of Science ID A1994NK03000006

  View details for PubMedID 8183284