Ann Marqueling, MD

All Publications

• Central Nervous System Xanthoma Disseminatum: Response to 2CdA in an Adolescent. Case reports in pediatrics DeMoss, P., Tang, N., Yeom, K., Chiang, A., Marqueling, A. L., Jeng, M. R. 2022; 2022: 9906668

  Abstract

  Xanthoma disseminatum is a normolipemic non-Langerhans cell histiocytosis characterized by red-brown rubbery papules of the skin which coalesce into plaque-like lesions with symmetric involvement of face, flexor, and intertriginous areas. Less commonly, xanthoma disseminatum may affect mucosal linings, abdominal organs, and the central nervous system, leading to endocrinopathies. We report a 12-year-old adolescent with mucosal, central nervous system, and painful cutaneous lesions, further complicated by diabetes insipidus and amenorrhea. Treatment with 2-chlorodeoxyadenosine led to relief of pain and significant improvement of mucosal, central nervous system, and cutaneous lesions, with subsequent restoration of menstrual cycles.

  View details for DOI 10.1155/2022/9906668

  View details for PubMedID 35910691

• 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

• 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

• Well-Appearing Newborn With a Vesiculobullous Rash at Birth. Pediatrics Stewart, S. E., Lin, J. L., Everhart, J. L., Pham, T. H., Marqueling, A. L., Rieger, K. E., Hilgenberg, S. L. 2018

  Abstract

  A term, appropriate-for-gestational-age, male infant born via normal spontaneous vaginal delivery presented at birth with a full-body erythematous, vesiculobullous rash. He was well-appearing with normal vital signs and hypoglycemia that quickly resolved. His father had a history of herpes labialis. His mother had an episode of herpes zoster during pregnancy and a prolonged rupture of membranes that was adequately treated. The patient underwent a sepsis workup, including 2 attempted but unsuccessful lumbar punctures, and was started on broad-spectrum antibiotics and acyclovir, given concerns about bacterial or viral infection. The rash evolved over the course of several days. Subsequent workup, with particular attention to his history and presentation, led to his diagnosis.

  View details for PubMedID 29437933

• Management of Peritoneal Dialysis Catheters That Erode Into Bowel: Two Pediatric Case Reports and a Review of the Literature PERITONEAL DIALYSIS INTERNATIONAL South, A. M., Crispin, M. K., Marqueling, A. L., Sutherland, S. M. 2016; 36 (6): 680-700

  Abstract

  Erosion of peritoneal dialysis (PD) catheters into the intestine is a rare complication of PD. Herein, we convey the first reports of 2 pediatric patients undergoing PD who were found to have the catheter eroding into their intestines. They were treated minimally with catheter removal and antibiotics. Definitive repair of the intestinal injury was not performed. These are the first pediatric patients reported with PD catheter erosion. Perforating injuries may be self-limiting, and therefore a more minimal approach may be considered in certain patient populations who do not express overt signs of peritonitis or illness.

  View details for DOI 10.3747/pdi.2016.00029

  View details for Web of Science ID 000389655100016

  View details for PubMedID 27903851

• Cutaneous Neonatal Lupus Arising in an Infant Conceived From an Oocyte Donation Pregnancy JAMA DERMATOLOGY Chiou, A. S., Sun, G., Kim, J., Wang, K. C., Marqueling, A. L. 2016; 152 (7): 846-847

  View details for DOI 10.1001/jamadermatol.2016.0001

  View details for PubMedID 26964004

• A Hyperpigmented Reticular Rash in a Patient on Peritoneal Dialysis. Peritoneal dialysis international South, A. M., Crispin, M. K., Marqueling, A. L., Sutherland, S. M. 2016; 36 (6): 699-700

  Abstract

  Chronically ill patients often develop uncommon exam findings. A 16-year-old female with end-stage renal disease secondary to immune complex-mediated glomerulonephritis on peritoneal dialysis (PD) developed a pruritic, hyperpigmented reticular rash on her abdomen, sparing the PD catheter insertion site. The rash appeared approximately 6 weeks after initiating PD. She used a heating pad nightly during PD for dialysis drain pain. Testing for systemic and autoimmune disease was negative. She was referred to dermatology, where the diagnosis of erythema ab igne (EAI), a well-described but less well-known hyperpigmented reticular cutaneous eruption caused by chronic exposure to low levels of infrared heat, was confirmed. The eruption is typically painless but is often pruritic. Common sources of heat include fires, stoves, portable heaters, heating pads, and laptop computers. The association between EAI and PD is unknown. Our patient discontinued the heating pad and her rash resolved.

  View details for PubMedID 27903857

• Plaque-Like Myofibroblastic Tumor: Report of Three Cases PEDIATRIC DERMATOLOGY Marqueling, A. L., Dasher, D., Friedlander, S. F., McCalmont, T. H., Frieden, I. J. 2013; 30 (5): 600-607

  Abstract

  Plaque-like myofibroblastic tumor of infancy (PMTI) was first reported in 2007. The first two cases described large, plaque-like tumors presenting in infancy with microscopic features consistent with dermatofibroma but with immunohistochemical features of myofibrocytic lineage. We present three additional cases of PMTI, the first cases reported since the initial two cases, and describe additional clinical features of this condition, including presentation in early childhood as opposed to infancy, development of ulceration, and aggressive growth. We propose shortening the name of this condition to plaque-like myofibroblastic tumor because presentation can occur in infancy or in early childhood.

  View details for DOI 10.1111/pde.12185

  View details for Web of Science ID 000324092500032

  View details for PubMedID 23848365

• Systemic treatments for severe pediatric psoriasis: a practical approach. Dermatologic clinics Marqueling, A. L., Cordoro, K. M. 2013; 31 (2): 267-288

  Abstract

  Severe psoriasis is uncommon in children, but when it occurs, can be physically, emotionally and socially disabling. Systemic treatments such as phototherapy, acitretin, methotrexate and cyclosporine have been used to manage severe pediatric psoriasis for decades. Newer biologic agents have demonstrated their effectiveness in adult psoriasis and are accumulating promising data in children. This article discusses the use of these treatments including their indications, efficacy, adverse effects, and monitoring requirements. The aim is to provide practical, clinically relevant information regarding the use of these medications alone and in various combinations based on available evidence and cumulative experience.

  View details for DOI 10.1016/j.det.2012.12.005

  View details for PubMedID 23557655

• Propranolol and Infantile Hemangiomas Four Years Later: A Systematic Review PEDIATRIC DERMATOLOGY Marqueling, A. L., Oza, V., Frieden, I. J., Puttgen, K. B. 2013; 30 (2): 182-191

  Abstract

  To systematically review the literature evaluating efficacy and adverse events of propranolol treatment for infantile hemangiomas, we searched the MEDLINE and Cochrane databases for all studies examining the response of infantile hemangiomas (IHs) to propranolol published between June 12, 2008, and June 15, 2012. Forty-one studies with 1,264 patients were included; 74% of patients were female and approximately 30% had received other treatments before propranolol. Propranolol was initiated at a mean age of 6.6 months at a mean dose of 2.1 mg/kg/day and for a mean treatment duration of 6.4 months. The response rate for patients with IHs treated with propranolol was 98% (range 82%-100%), with response rate defined as any improvement with propranolol. Treatment response rates were comparable for studies evaluating IHs at specific sites, such as periorbital IHs. Studies that followed patients after treatment completion reported IH rebound growth in 17% of patients. There were 371 adverse events reported in 1,189 patients. The most common adverse events were changes in sleep (n = 136) and acrocyanosis (n = 61). Serious adverse events were rare, with reports of symptomatic hypotension in five patients, hypoglycemia in four, and symptomatic bradycardia in one. This systematic review of 1,264 patients treated with propranolol for IHs showed a high rate of efficacy and a low rate of serious adverse events.

  View details for DOI 10.1111/pde.12089

  View details for Web of Science ID 000315961500003

  View details for PubMedID 23405852

• Keratosis pilaris rubra - A common but underrecognized condition ARCHIVES OF DERMATOLOGY Marqueling, A. L., Gilliam, A. E., Prendiville, J., Zvulunov, A., Antaya, R. J., Sugarman, J., Pang, M., Lee, P., Eichenfield, L., Metz, B., Goldberg, G. N., Phillips, R. J., Frieden, I. J. 2006; 142 (12): 1611-1616

  Abstract

  Keratosis pilaris is a common skin disorder of childhood that often improves with age. Less common variants of keratosis pilaris include keratosis pilaris atrophicans and atrophodermia vermiculata.In this case series from dermatology practices in the United States, Canada, Israel, and Australia, the clinical characteristics of 27 patients with keratosis pilaris rubra are described. Marked erythema with follicular prominence was noted in all patients, most commonly affecting the lateral aspects of the cheeks and the proximal arms and legs, with both more marked erythema and widespread extent of disease than in keratosis pilaris. The mean age at onset was 5 years (range, birth to 12 years). Sixty-three percent of patients were male. No patients had atrophy or scarring from their lesions. Various treatments were used, with minimal or no improvement in most cases.Keratosis pilaris rubra is a variant of keratosis pilaris, with more prominent erythema and with more widespread areas of skin involvement in some cases, but without the atrophy or hyperpigmentation noted in certain keratosis pilaris variants. It seems to be a relatively common but uncommonly reported condition.

  View details for Web of Science ID 000242803400012

  View details for PubMedID 17178988

• A population-based analysis of laboratory abnormalities during isotretinoin therapy for acne vulgaris ARCHIVES OF DERMATOLOGY Zane, L. T., Leyden, W. A., Marqueling, A. L., Manos, M. 2006; 142 (8): 1016-1022

  Abstract

  To determine the incidence of abnormal laboratory test results among isotretinoin users.Retrospective cohort.Comprehensive managed care health plan in Northern California.The study population comprised 13 772 patients aged 13 to 50 years with acne, undergoing oral isotretinoin therapy between March 1995 and September 2002.Laboratory values for serum triglyceride, total cholesterol, and liver transaminase levels; white blood cell count, hemoglobin level, and platelet count; and frequency of abnormal laboratory results by severity grade as defined by the National Cancer Institute Common Terminology Criteria for Adverse Events v3.0.Substantial increases in the cumulative incidence of abnormalities were seen in serum lipid and transaminase levels, but not in hematologic parameters, during isotretinoin treatment compared with the baseline period. The cumulative incidence of new abnormalities in patients with normal values at baseline was 44% for triglyceride level, 31% for total cholesterol level, and 11% for transaminase level. Moderate to severe abnormalities in lipid and transaminase levels were generally transient and reversible. New abnormalities in hematological test results were uncommon.The incidence of abnormally high serum lipid levels during isotretinoin treatment may be greater than previously estimated. Elevations in transaminase level are generally mild. Normal baseline values of serum lipid and transaminase levels do not preclude the development of new abnormalities during isotretinoin treatment. Routine monitoring of white blood cell count, hemoglobin level, and platelet count during isotretinoin therapy may be of little utility without clinical suspicion of an abnormality. The clinical significance of laboratory abnormalities during isotretinoin therapy remains to be determined.

  View details for Web of Science ID 000239762700009

  View details for PubMedID 16924051

• Depression and suicidal behavior in acne patients treated with isotretinoin: A systematic review SEMINARS IN CUTANEOUS MEDICINE AND SURGERY Marqueling, A. L., Zane, L. T. 2005; 24 (2): 92-102

  Abstract

  Isotretinoin (13-cis retinoic acid) is an effective treatment for severe cystic or recalcitrant acne vulgaris; however, concerns have been raised regarding its potential association with depression and suicidal behavior. We sought to explore the proposed relationship between isotretinoin use and the risk of depression and attempted and completed suicide in patients with acne vulgaris by performing a systematic literature search for studies reporting primary data on depression and suicidal behavior in patients treated with isotretinoin for acne vulgaris. Nine studies met the qualifying criteria for our analysis. Rates of depression among isotretinoin users ranged from 1% to 11% across studies, with similar rates in oral antibiotic control groups. Overall, studies comparing depression before and after treatment did not show a statistically significant increase in depression diagnoses or depressive symptoms. Some, in fact, demonstrated a trend toward fewer or less severe depressive symptoms after isotretinoin therapy. This decrease was particularly evident in patients with pretreatment scores in the moderate or clinical depression range. No correlation between isotretinoin use and suicidal behavior was reported, although only one retrospective study presented data on this topic. Although the current literature does not support a causative association between isotretinoin use and depression, there are important limitations to many of the studies. The available data on suicidal behavior during isotretinoin treatment are insufficient to establish a meaningful causative association.

  View details for DOI 10.1016/j.sder.2005.04.003

  View details for Web of Science ID 000235864500006

  View details for PubMedID 16092797