A5082317407- Hair Growth and Disorders
- Dermatology and Skin Diseases
- Autoimmune Bullous Skin Diseases
- Nail Diseases and Treatments
- Skin and Cellular Biology Research
- melanin and skin pigmentation
- Genetic and rare skin diseases.
- Cutaneous lymphoproliferative disorders research
- RNA regulation and disease
- Vascular Malformations and Hemangiomas
- Tumors and Oncological Cases
- Neonatal skin health care
- Eosinophilic Disorders and Syndromes
- Dermatologic Treatments and Research
- Autoimmune and Inflammatory Disorders
- Cancer and Skin Lesions
- Dermatological and COVID-19 studies
- Allergic Rhinitis and Sensitization
- Wnt/β-catenin signaling in development and cancer
- Medicine and Dermatology Studies History
- Skin Protection and Aging
- Parvovirus B19 Infection Studies
- Dermatological and Skeletal Disorders
- Vascular Tumors and Angiosarcomas
- Systemic Lupus Erythematosus Research
Children's Hospital of Philadelphia
2016-2025
National Institute of Arthritis and Musculoskeletal and Skin Diseases
2022-2025
National Institutes of Health
2022-2025
University of Pennsylvania
2014-2023
Philadelphia University
2009-2023
GTx (United States)
2021
Adult and Pediatric Dermatology
2021
American Academy of Dermatology
2016
Rubin
2012
Rockefeller University
2004
Wnt glycoproteins play essential roles in the development of metazoan organisms. Many proteins, such as Wnt1, activate well-conserved canonical signaling pathway, which results accumulation β-catenin cytosol and nucleus. Other Wnts, Wnt5a, mechanisms do not involve are less well characterized. Dishevelled (Dvl) is a key component Wnt/β-catenin becomes phosphorylated upon activation this pathway. In addition to we show that several including trigger phosphorylation mammalian Dvl proteins...
Evidence-based recommendations for the treatment of vitiligo in pediatric, adolescent, and young adult patients US are needed.
Chronic skin disorders in children frequently are visible and can cause stigmatization. However, the extent of stigmatization from chronic disease association with mental health needs further study.
Importance VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly defined genetic disease with an estimated prevalence of 1 in 4269 men older than 50 years and marked by systemic inflammation, progressive bone marrow failure, inflammatory cutaneous manifestations. Objective To define the spectrum manifestations association these findings clinical, genetic, histological features. Design, Setting, Participants This observational cohort study included data from 112...
WHIM syndrome is a rare primary immunodeficiency typically caused by autosomal dominant activating mutations in the CXCR4 gene. refers to warts, hypogammaglobulinaemia, infections and myelokathexis, which are phenotypes of syndrome. Here we describe case tinea capitis patient with that was unresponsive multiple systemic antifungal treatments for over 10 years. The patient's recalcitrant infection ultimately cured after treatment posaconazole. These findings suggest defects may confer...
Advances in smartphone photography (both quality and image transmission) may improve access to care via direct parent-to-clinician telemedicine. However, the accuracy of diagnoses that are reliant on parent-provided photographs has not been formally compared with made person.To assess whether pediatric skin conditions taken by parents sufficient permit accurate diagnosis.A prospective study was conducted among 40 patient-parent dyads at a dermatology clinic Children's Hospital Philadelphia...
The current classification for alopecia areata (AA) does not provide a consistent assessment of disease severity.To develop an AA severity scale based on expert experience.A modified Delphi process was utilized. An advisory group 22 clinical experts from the United States formed to this scale. Representatives pharmaceutical industry provided feedback during its development.Survey responses were used draft criteria, aspiring simple that may be easily applied in practice. A consensus vote held...
Central conducting lymphatic anomaly (CCLA) due to congenital maldevelopment of the lymphatics can result in debilitating and life-threatening disease with limited treatment options. We identified 4 individuals CCLA, lymphedema, microcystic malformation pathogenic, mosaic variants KRAS. To determine functional impact these identify a targeted therapy for individuals, we used primary human dermal endothelial cells (HDLECs) zebrafish larvae model dysplasia. Expression p.Gly12Asp p.Gly13Asp...
Abstract Propranolol and timolol are nonselective ß‐adrenergic antagonists that induce peripheral vasoconstriction affect angiogenic cytokines. Oral topical ß‐blocker therapy has become the de facto first‐line treatment for complicated infantile hemangiomas because of its superior efficacy tolerability. Pyogenic granulomas or lobular capillary common acquired vascular tumors accounting 0.5% all skin nodules in children. Although they benign proliferations, is often sought recurrent episodes...
Alopecia areata (AA) is a clinically heterogeneous disease that characterized by nonscarring hair loss, nail changes, and increased risk of other autoimmune disease. During clinical visits, children with AA often report bullying. We survey results highlight the prevalence bullying surrounding emotional impact in pediatric patients. found was common overall additional psychological impact, including impairment social home life, even more common. Children all ages experienced Boys reported...
Methotrexate (MTX) is a readily accessible drug, first used in 1948 and employed for wide variety of indications since then. However, despite widespread off-label use, FDA labeling does not include approved the use MTX many inflammatory skin diseases pediatric patients, including morphea, psoriasis, atopic dermatitis, alopecia areata, among others. Without published treatment guidelines, some clinicians may be hesitant to off-label, or uncomfortable prescribing this population. To address...
Abstract Background VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a genetic disorder characterized by bone marrow failure and systemic inflammation, putting patients at risk for infections. This study comprehensively examines the prevalence of opportunistic infections in with VEXAS, evaluating their impact on clinical outcomes potential preventive measures. Methods Patients confirmed were included. Survival analysis logistic regression used to identify...
The incidence of thyroid disease in children with alopecia areata (AA) has been widely studied no consensus on whether a true association AA exists. In addition, screening practices for dysfunction vary among clinicians.To reduce health care costs, eliminate unnecessary testing, and standardize clinical practices, we sought to characterize function establish guidelines screening.A single-site retrospective medical chart review was carried out an outpatient pediatric dermatology clinic...
The qualitative grading of acne is important for routine clinical care and trials, although many useful systems exist, no single global system has had universal acceptance. In addition, current instruments focus primarily on evaluating primary lesions (eg, comedones, papules, nodules) or exclusively signs secondary change postinflammatory hyperpigmentation, scarring).To develop validate an that provides a comprehensive evaluation changes due to acne.This diagnostic study created...
Pediatric alopecia areata (AA) prevalence and incidence data are key to understanding the natural history of this medical disease.To determine AA in a pediatric population across time, age, sex, race ethnicity, geographic areas within US.In multicenter cohort study conducted among 5 children's hospitals, (January 2009 November 2020) were collected from standardized electronic health record (PEDSnet database, version 4.0) evaluate AA. The included patients younger than 18 years with at least...