Dawn H. Siegel, MD

All Publications

• Barriers to Health Care Affordability Among Parents of Children with Atopic Dermatitis. Dermatitis : contact, atopic, occupational, drug Youn, C. G., Bae, G. H., Honari, G., Chen, J. K., Sarin, K. Y., Siegel, D. H. 2025

  Abstract

  Abstracts: Background: Pediatric atopic dermatitis (AD) can pose a significant financial burden to families. However, no studies exist that assess the impact of pediatric AD on health care access/affordability at the parental level. Objective: Explore the effects of childhood AD on parental access to health care and the socioeconomic factors that might exacerbate these problems. Methods: The National Health Interview Survey was used to analyze 48,329,314 participants who answered the validated question on pediatric AD. Multivariable logistic regression analyses were performed to assess the association between pediatric AD and parental access to care. Results: Parents of children with AD were more likely to have difficulty accessing prescription medications (aOR: 1.47; [95% CI 1.31-1.65]), follow-up care (1.36; [95% CI 1.17-1.57]), specialist care (aOR: 1.53; [95% CI 1.33-1.75]), and more likely to purchase medications from abroad (aOR: 1.35; [95% CI 1.09-1.67]) relative to their counterparts with children without AD. Within the AD cohort, uninsured or lower income participants had higher odds of facing these barriers to care. Conclusions: Parents of children with AD are more likely to face barriers in health care access, and significant disparities exist based on sociodemographic characteristics.

  View details for DOI 10.1089/derm.2024.0248

  View details for PubMedID 39937150

• Highlights from the Field of Pediatric Dermatology Research from the 2023 PeDRA Annual Conference. The Journal of investigative dermatology Chang, H. R., Dykman, M., Castelo-Soccio, L., Cotton, C. H., Coughlin, C. C., Hawryluk, E. B., Lawley, L., Wine Lee, L., Marathe, K., Siegel, D. H., Yu, J., PeDRA Focused Study Group Leads, Siegel, M., Fernandez Faith, E., Arkin, L., Boull, C., Brandling-Bennett, H., Bruckner, A. L., Buethe, M. G., Chiu, Y. E., Choate, K., Craiglow, B. G., Garcia Romero, M. T., Heath, C., Holland, K. E., Jakus, J., Yasmine Kirkorian, A., Lalor, L., Lara-Corrales, I., Luu, M., Metry, D., Paller, A., Pope, E., Ramien, M., Rork, J. F., Schoch, J., Shah, S. D., Shin, H. T., Sibbald, C., Silverberg, N., Streicher, J. L., Teng, J., Vivar, K., Wan, J. 2024

  View details for DOI 10.1016/j.jid.2024.09.014

  View details for PubMedID 39692640

• Creating an Empirical Dermatology Dataset Through Crowdsourcing With Web Search Advertisements. JAMA network open Ward, A., Li, J., Wang, J., Lakshminarasimhan, S., Carrick, A., Campana, B., Hartford, J., Sreenivasaiah, P. K., Tiyasirisokchai, T., Virmani, S., Wong, R., Matias, Y., Corrado, G. S., Webster, D. R., Smith, M. A., Siegel, D., Lin, S., Ko, J., Karthikesalingam, A., Semturs, C., Rao, P. 2024; 7 (11): e2446615

  Abstract

  Health datasets from clinical sources do not reflect the breadth and diversity of disease, impacting research, medical education, and artificial intelligence tool development. Assessments of novel crowdsourcing methods to create health datasets are needed.To evaluate if web search advertisements (ads) are effective at creating a diverse and representative dermatology image dataset.This prospective observational survey study, conducted from March to November 2023, used Google Search ads to invite internet users in the US to contribute images of dermatology conditions with demographic and symptom information to the Skin Condition Image Network (SCIN) open access dataset. Ads were displayed against dermatology-related search queries on mobile devices, inviting contributions from adults after a digital informed consent process. Contributions were filtered for image safety and measures were taken to protect privacy. Data analysis occurred January to February 2024.Dermatologist condition labels as well as estimated Fitzpatrick Skin Type (eFST) and estimated Monk Skin Tone (eMST) labels.The primary metrics of interest were the number, quality, demographic diversity, and distribution of clinical conditions in the crowdsourced contributions. Spearman rank order correlation was used for all correlation analyses, and the χ2 test was used to analyze differences between SCIN contributor demographics and the US census.In total, 5749 submissions were received, with a median of 22 (14-30) per day. Of these, 5631 (97.9%) were genuine images of dermatological conditions. Among contributors with self-reported demographic information, female contributors (1732 of 2596 contributors [66.7%]) and younger contributors (1329 of 2556 contributors [52.0%] aged <40 years) had a higher representation in the dataset compared with the US population. Of 2614 contributors who reported race and ethnicity, 852 (32.6%) reported a racial or ethnic identity other than White. Dermatologist confidence in assigning a differential diagnosis increased with the number of self-reported demographic and skin-condition-related variables (Spearman R = 0.1537; P < .001). Of 4019 contributions reporting duration since onset, 2170 (54.0%) reported onset within less than 7 days of submission. Of the 2835 contributions that could be assigned a dermatological differential diagnosis, 2523 (89.0%) were allergic, infectious, or inflammatory conditions. eFST and eMST distributions reflected the geographical origin of the dataset.The findings of this survey study suggest that search ads are effective at crowdsourcing dermatology images and could therefore be a useful method to create health datasets. The SCIN dataset bridges important gaps in the availability of images of common, short-duration skin conditions.

  View details for DOI 10.1001/jamanetworkopen.2024.46615

  View details for PubMedID 39565619

• PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome: A case report and review of the literature. Pediatric dermatology Tran, M. M., Sprau, P. B., Moyer, A. R., Rieger, K. E., Lewis, M. A., Hsu, J. J., Siegel, D. H. 2024

  Abstract

  PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome is a rare autoinflammatory disorder often arising in pediatric patients. We present a case of an 18-year-old female with a past medical history of growth failure, immunoglobulin Anephropathy, and inflammatory arthritis who presented to a pediatric dermatology clinic with findings of acne, psoriasiform dermatitis, and hidradenitis suppurativa, whose clinical, genetic, and laboratory findings were most consistent with PAMI syndrome. We conducted a literature review to better characterize this rare condition in the context of dermatologic findings. Recognition of the distinctive skin findings seen in PAMI syndrome can help distinguish it from other inflammatory disorders, enabling expedited diagnosis and treatment.

  View details for DOI 10.1111/pde.15669

  View details for PubMedID 38967953

• Delphi Consensus on Diagnostic Criteria for LUMBAR Syndrome. The Journal of pediatrics Metry, D., Copp, H. L., Rialon, K. L., Iacobas, I., Baselga, E., Dobyns, W. B., Drolet, B., Frieden, I. J., Garzon, M., Haggstrom, A., Hanson, D., Hollenbach, L., Keppler-Noreuil, K. M., Maheshwari, M., Siegel, D. H., Waseem, S., Dias, M. 2024: 114101

  Abstract

  OBJECTIVE: To develop consensus on diagnostic criteria for LUMBAR syndrome, the association of segmental infantile hemangiomas that affect the Lower body with Urogenital anomalies, Ulceration, spinal cord Malformations, Bony defects, Anorectal malformations, Arterial anomalies and/or Renal anomalies.STUDY DESIGN: These diagnostic criteria were developed by an expert multidisciplinary and multi-institutional team based on analysis of peer-reviewed data, followed by electronic-Delphi consensus of a panel of 61 international pediatric specialists.RESULTS: After two Delphi rounds, a 92% or higher level of agreement was reached for each Delphi statement. 98% of panelists agreed with the diagnostic criteria, and 100% agreed the criteria would be useful in clinical practice. The diagnosis of LUMBAR requires the presence of a segmental, or patterned, infantile hemangioma of the lumbosacral, sacrococcygeal, or pelvic cutaneous regions plus one additional criterion of the urogenital, spinal, bony, anorectal, arterial, or renal organ systems.CONCLUSIONS: These diagnostic criteria will enhance clinical care by improving screening, detection, and overall awareness of this poorly understood neurocutaneous disorder. The criteria can be utilized by a wide variety of pediatric subspecialists. In addition, formal criteria will improve phenotypic uniformity among LUMBAR syndrome cohorts and a patient registry, allowing investigators to assess clinical features, long-term outcomes, and results of genetic sequencing in a standardized manner. Finally, these criteria will serve as a starting point for prospective studies to establish formal screening and management guidelines.

  View details for DOI 10.1016/j.jpeds.2024.114101

  View details for PubMedID 38759778

• Are repeat neuroimaging studies needed in PHACE syndrome? Developmental medicine and child neurology Siegel, D. H., Frieden, I. J. 2024

  View details for DOI 10.1111/dmcn.15945

  View details for PubMedID 38654637

• Plexiform neurofibroma masquerading as a giant congenital melanocytic nevus. Pediatric dermatology Olsen, G. M., Siegel, D. H., Sokumbi, O., Chiu, Y. E. 2024

  Abstract

  A 4-month-old male presented for a large, hypertrichotic brown patch on the upper back with several scattered 0.5-1.5 cm, round to oval, brown macules and patches on the trunk and extremities. The lesion was initially diagnosed as a giant congenital melanocytic nevus based on clinical exam and histopathology with immunohistochemical stains. The patient was later diagnosed with neurofibromatosis type 1, and the lesion on the back developed a "bag of worms" texture consistent with a plexiform neurofibroma and found to harbor a pathogenic variant in the NF1 gene. This case highlights the diagnostic challenge of differentiating these lesions and their overlapping clinical and histopathological features.

  View details for DOI 10.1111/pde.15611

  View details for PubMedID 38561464

• Multicenter Study of Long-term Outcomes and Quality of Life in PHACE Syndrome after Age 10. The Journal of pediatrics Braun, M., Frieden, I. J., Siegel, D. H., George, E., Hess, C. P., Fox, C. K., Chamlin, S. L., Drolet, B. A., Metry, D., Pope, E., Powell, J., Holland, K., Ulschmid, C., Liang, M. G., Barry, K. K., Ho, T., Cotter, C., Baselga, E., Bosquez, D., Jain, S. N., Bui, J. K., Lara-Corrales, I., Funk, T., Small, A., Baghoomian, W., Yan, A. C., Treat, J. R., Hogrogian, G. S., Huang, C., Haggstrom, A., List, M., McCuaig, C. C., Barrio, V., Mancini, A. J., Lawley, L. P., Grunnet-Satcher, K., Horii, K. A., Newell, B., Nopper, A., Garzon, M. C., Scollan, M. E., Mathes, E. F. 2024: 113907

  Abstract

  To characterize long-term outcomes of PHACE Syndrome STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality-of-life domains.A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10 -77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 standard deviation.PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

  View details for DOI 10.1016/j.jpeds.2024.113907

  View details for PubMedID 38218370

• Best Practices for Research in Virtual and Augmented Reality in Dermatology. The Journal of investigative dermatology Muralidharan, V., Tran, M. M., Barrios, L., Beams, B., Ko, J. M., Siegel, D. H., Bailenson, J. 2024; 144 (1): 17-23

  Abstract

  Virtual reality (VR) and augmented reality (AR) technologies have advanced rapidly in recent years. These cutting-edge technologies provide dermatology researchers, educators, proceduralists, and patients with opportunities in new scientific horizons. VR is a technology that facilitates immersive human experiences by allowing users to connect with various simulated environments through natural head and hand movements, whereas AR supplements a user's perception of their real environment with virtual elements. Despite technological advancements, there is limited literature on the methodological steps for conducting rigorous VR and AR research in dermatology. Effective storyboarding, user-driven design, and interdisciplinary teamwork play a central role in ensuring that VR/AR applications meet the specific needs of dermatology clinical and research teams. We present a step-by-step approach for their design, team composition, and evaluation in dermatology research, medical education, procedures, and habit formation strategies. We also discuss current VR and AR dermatology applications and the importance of ethical and safety considerations in deploying this new technology.

  View details for DOI 10.1016/j.jid.2023.10.014

  View details for PubMedID 38105083

• Presenting characteristics and progression of pediatric-onset morphea: Interim analysis of a prospective registry. Pediatric dermatology Ng, A. T., Brandling-Bennett, H. A., Drolet, B. A., Siegel, D. H., Chiu, Y. E. 2023

  Abstract

  Morphea is a rare fibrosing disorder with a highly variable disease course, which can complicate management. Here, we present a prospective cohort study describing the current treatments used in the management of pediatric-onset morphea and assessing responses to systemic and topical therapies. Most patients demonstrated inactive disease by 1 year, regardless of treatment, though recurrences were common in our cohort overall (39%). Our results support the need for continuous monitoring of all children with morphea following the completion of treatment, including topical treatment, due to high rates of disease relapse.

  View details for DOI 10.1111/pde.15350

  View details for PubMedID 37317938

• PTPN11 Mosaicism Causes a Spectrum of Pigmentary and Vascular Neurocutaneous Disorders and Predisposes to Melanoma JOURNAL OF INVESTIGATIVE DERMATOLOGY Polubothu, S., Bender, N., Muthiah, S., Zecchin, D., Demetriou, C., Martin, S., Malhotra, S., Travnickova, J., Zeng, Z., Boehm, M., Barbarot, S., Cottrell, C., Davies, O., Baselga, E., Burrows, N. P., Carmignac, V., Diaz, J., Fink, C., Haenssle, H. A., Happle, R., Harland, M., Majerowski, J., Vabres, P., Vincent, M., Newton-Bishop, J. A., Bishop, D., Siegel, D., Patton, E., Topf, M., Rajan, N., Drolet, B., Kinsler, V. A. 2023; 143 (6): 1042-1051.e3

  Abstract

  Phakomatosis pigmentovascularis is a diagnosis that denotes the coexistence of pigmentary and vascular birthmarks of specific types, accompanied by variable multisystem involvement, including CNS disease, asymmetrical growth, and a predisposition to malignancy. Using a tight phenotypic group and high-depth next-generation sequencing of affected tissues, we discover here clonal mosaic variants in gene PTPN11 encoding SHP2 phosphatase as a cause of phakomatosis pigmentovascularis type III or spilorosea. Within an individual, the same variant is found in distinct pigmentary and vascular birthmarks and is undetectable in blood. We go on to show that the same variants can cause either the pigmentary or vascular phenotypes alone, and drive melanoma development within pigmentary lesions. Protein structure modeling highlights that although variants lead to loss of function at the level of the phosphatase domain, resultant conformational changes promote longer ligand binding. In vitro modeling of the missense variants confirms downstream MAPK pathway overactivation and widespread disruption of human endothelial cell angiogenesis. Importantly, patients with PTPN11 mosaicism theoretically risk passing on the variant to their children as the germline RASopathy Noonan syndrome with lentigines. These findings improve our understanding of the pathogenesis and biology of nevus spilus and capillary malformation syndromes, paving the way for better clinical management.

  View details for DOI 10.1016/j.jid.2022.09.661

  View details for Web of Science ID 001010699700001

  View details for PubMedID 36566878

• Papillomas of Costello syndrome are not associated with human papillomavirus (HPV) infection in a small case series. Journal of the American Academy of Dermatology Olsen, G. M., Johnson, L., Castel, P., Stevenson, D. A., White, K., Chiu, Y. E., Krol, A., Siegel, D. H. 2023

  View details for DOI 10.1016/j.jaad.2023.03.043

  View details for PubMedID 37028601

• Two for two: Dual therapy with erlotinib and acitretin for twins with severe keratoderma in Olmsted syndrome. Pediatric dermatology Butala, S., Phan, S., Siegel, D. H., Carlberg, V., Paller, A. S. 2023

  Abstract

  Olmsted syndrome (OS) is a rare genetic disorder, characterized by painful palmoplantar keratoderma (PPK), periorificial and intertriginous hyperkeratoses, and alopecia. Fewer than 75 cases have been described. Variants in TRPV3 result in constitutive activation of transient receptor potential vanilloid 3, leading to increased epidermal growth factor receptor (EGFR) signaling, palmoplantar epidermal hyperproliferation, and exquisite lesional pain. We describe pre-school aged twins with OS with partial improvement from oral erlotinib, an EGFR inhibitor, but dramatic reduction of their persistent palmoplantar thickening and pain from adding acitretin.

  View details for DOI 10.1111/pde.15264

  View details for PubMedID 36709954

• Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11. Pediatric dermatology Davies, O. M., Ng, A. T., Tran, J., Blumenthal, S., Arkin, L. M., Nopper, A. J., Cottrell, C. E., Garzon, M., Siegel, D. H., Frieden, I. J., Drolet, B. A. 2022; 39 (6): 914-919

  Abstract

  Cutaneous capillary malformations (CMs) describe a group of vascular birthmarks with heterogeneous presentations. CMs may present as an isolated finding or with other associations, including glaucoma and leptomeningeal angiomatosis (i.e., Sturge-Weber syndrome) or pigmentary birthmarks (i.e., phakomatosis pigmentovascularis). The use of targeted genetic sequencing has revealed that postzygotic somatic variations in GNAQ and GNA11 at codon 183 are associated with CMs. We report five patients with early-onset hypertension and discuss possible pathogenesis of hypertension.Twenty-nine patients with CMs, confirmed GNAQ/11 postzygotic variants, and documented past medical history were identified from a multi-institutional vascular anomalies study. Early-onset hypertension was defined as hypertension before the age of 55 years. Clinical data were reviewed for evidence of hypertension, such as documentation of diagnosis or elevated blood pressure measurements.Five of the 29 patients identified as having GNAQ/11 postzygotic variants had documented early-onset hypertension. Three individuals harbored a GNAQ p.R183Q variant, and two individuals harbored a GNA11 p.R183C variant. All individuals had extensive cutaneous CMs involving the trunk and covering 9%-56% of their body surface area. The median age of hypertension diagnosis was 15 years (range 11-24 years), with three individuals having renal abnormalities on imaging.Early-onset hypertension is associated with extensive CMs harboring somatic variations in GNAQ/11. Here, we expand on the GNAQ/11 phenotype and hypothesize potential mechanisms driving hypertension. We recommend serial blood pressure measurements in patients with extensive CMs on the trunk and extremities to screen for early-onset hypertension.

  View details for DOI 10.1111/pde.15103

  View details for PubMedID 36440997

• Development of an artificial intelligence algorithm for the diagnosis of infantile hemangiomas. Pediatric dermatology Zhang, A. J., Lindberg, N., Chamlin, S. L., Haggstrom, A. N., Mancini, A. J., Siegel, D. H., Drolet, B. A. 2022

  Abstract

  Prompt and accurate diagnosis of infantile hemangiomas is essential to prevent potential complications. This can be difficult due to high rates of misdiagnosis and poor access to pediatric dermatologists. In this study, we trained an artificial intelligence algorithm to diagnose infantile hemangiomas based on clinical images. Our algorithm achieved a 91.7% overall accuracy in the diagnosis of facial infantile hemangiomas.

  View details for DOI 10.1111/pde.15149

  View details for PubMedID 36164801

• Early-onset hypertension associated with extensive cutaneous capillary malformations harboring postzygotic variants in GNAQ and GNA11 PEDIATRIC DERMATOLOGY Davies, O. T., Ng, A. T., Tran, J., Blumenthal, S., Arkin, L. M., Nopper, A. J., Cottrell, C. E., Garzon, M., Siegel, D. H., Frieden, I. J., Drolet, B. A. 2022

  View details for DOI 10.1111/pde.15103

  View details for Web of Science ID 000851481700001

• 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

• Reply to: "Photodistributed toxic epidermal necrolysis in association with lamotrigine and tanning bed exposure". JAAD case reports Tjahjono, L., Young, K., Wanat, K., Siegel, D. 2022; 23: 164-165

  View details for DOI 10.1016/j.jdcr.2021.08.042

  View details for PubMedID 35519799

• 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

• 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

• Costello syndrome: Clinical phenotype, genotype, and management guidelines. American journal of medical genetics. Part A Gripp, K. W., Morse, L. A., Axelrad, M., Chatfield, K. C., Chidekel, A., Dobyns, W., Doyle, D., Kerr, B., Lin, A. E., Schwartz, D. D., Sibbles, B. J., Siegel, D., Shankar, S. P., Stevenson, D. A., Thacker, M. M., Weaver, K. N., White, S. M., Rauen, K. A. 2019

  Abstract

  Costello syndrome (CS) is a RASopathy caused by activating germline mutations in HRAS. Due to ubiquitous HRAS gene expression, CS affects multiple organ systems and individuals are predisposed to cancer. Individuals with CS may have distinctive craniofacial features, cardiac anomalies, growth and developmental delays, as well as dermatological, orthopedic, ocular, and neurological issues; however, considerable overlap with other RASopathies exists. Medical evaluation requires an understanding of the multifaceted phenotype. Subspecialists may have limited experience in caring for these individuals because of the rarity of CS. Furthermore, the phenotypic presentation may vary with the underlying genotype. These guidelines were developed by an interdisciplinary team of experts in order to encourage timely health care practices and provide medical management guidelines for the primary and specialty care provider, as well as for the families and affected individuals across their lifespan. These guidelines are based on expert opinion and do not represent evidence-based guidelines due to the lack of data for this rare condition.

  View details for DOI 10.1002/ajmg.a.61270

  View details for PubMedID 31222966

• The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway AMERICAN JOURNAL OF MEDICAL GENETICS PART A Stevenson, D. A., Schill, L., Schoyer, L., Andresen, B. S., Bakker, A., Bayrak-Toydemir, P., Burkitt-Wright, E., Chatfield, K., Elefteriou, F., Elgersma, Y., Fisher, M. J., Franz, D., Gelb, B. D., Goriely, A., Gripp, K. W., Hardan, A. Y., Keppler-Noreuil, K. M., Kerr, B., Korf, B., Leoni, C., McCormick, F., Plotkin, S. R., Rauen, K. A., Reilly, K., Roberts, A., Sandler, A., Siegel, D., Walsh, K., Widemann, B. C. 2016; 170 (8): 1959-1966

  Abstract

  The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation-arteriovenous malformation (CM-AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.

  View details for DOI 10.1002/ajmg.a.37723

  View details for PubMedID 27155140

• 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