A5025049501- RNA regulation and disease
- Hair Growth and Disorders
- melanin and skin pigmentation
- Dermatology and Skin Diseases
- Skin and Cellular Biology Research
- Autoimmune Bullous Skin Diseases
- Dermatological and Skeletal Disorders
- Colorectal and Anal Carcinomas
- Mechanical Circulatory Support Devices
- Hidradenitis Suppurativa and Treatments
- Neonatal skin health care
- Vascular Malformations and Hemangiomas
- Wnt/β-catenin signaling in development and cancer
- Microscopic Colitis
- Nail Diseases and Treatments
- Oral health in cancer treatment
- Innovative Approaches in Technology and Social Development
- Infection Control and Ventilation
- Hospital Admissions and Outcomes
- Genetic and rare skin diseases.
- Genomics and Rare Diseases
- Hereditary Neurological Disorders
- Cancer Research and Treatments
- Parvovirus B19 Infection Studies
- Allergic Rhinitis and Sensitization
Albert Einstein College of Medicine
2022-2025
Children's Hospital of Philadelphia
2019-2025
Lucile Packard Children's Hospital
2024
Montefiore Medical Center
2023
University of Pennsylvania
2019
Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) are the most frequent, recurrent monogenic of cerebral palsy (CP). We investigated range clinical phenotypes owing to disruptions determine association between NEDSDV CP.Genetic information from 404 individuals collectively 392 pathogenic were ascertained for study. From these, detailed 52 previously unpublished collected combined 68 published...
ABSTRACT Our study aimed to evaluate cognitive function in individuals with genetic skin disorders involving neuroectoderm ( n = 8) compared only ectoderm or mesoderm 16) involvement. We hypothesized that neuroectodermal involvement would result poorer neurocognitive performance. A prospective, cross‐sectional pilot of 24 participants evaluated cognition, adaptive skills, behavior, and quality life (QoL) using neurodevelopmental tests. Participants' characteristics outcomes interest were...
Abstract Background/objectives Individuals with vitiligo have an increased risk of depression, anxiety, social isolation and detrimental effects on body image/self-esteem. However, assessments quality life (QoL) impact not focused caregivers children vitiligo. To address this, we determined the QoL in parents to assess relationship between parameters disease duration, location, severity. Methods We performed a cross-sectional study involving 123 diagnosed for at least 3 months, who presented...
A cross-sectional study of 41 children aged 4-17 years with alopecia areata and their siblings without was conducted. total 51% had the Severity Alopecia Tool scores in range 0-25%, 12% between 26% 49%, 36% 75% 100%. The fecal microbiome characterized using shotgun metagenomic sequencing. comparison alpha beta diversity yielded a small but statistically significant difference on basis Jaccard distance, which measures species presence absence samples. However, follow-up analysis did not...
Abstract Background/Objective In spring 2020, high numbers of children presented with acral pernio‐like skin rashes, concurrent the coronavirus disease 2019 (COVID‐19) pandemic. Understanding their clinical characteristics/ infection status may provide prognostic information and facilitate decisions about management. Methods A pediatric‐specific dermatology registry was created by Pediatric Dermatology COVID‐19 Response Task Force Society for (SPD) Research Alliance (PeDRA) managed...
Abstract Background/Objective Dupilumab is highly effective in treating atopic dermatitis (AD). However, some patients experience difficulties with dupilumab therapy, such as inadequate clinical response, failure to achieve long‐term disease control, or adverse events (AEs). Our objective assess response and AEs occurring children on therapy for AD. Methods This a retrospective cohort study of Collected variables included patient demographics, medical histories, characteristics. Response...
Abstract The rate of pediatric hospitalization for cutaneous pathology has been increasing in recent years, often requiring the expertise consulting dermatologists; however, infrastructure inpatient dermatology consultative services remains poorly characterized. We sought to assess structure, consult volume, physician compensation, and utilization teledermatology better understand current care model. Our survey 118 dermatologists revealed that 89% respondents see between 1 10 new consults...
Abstract Background Lipid metabolism has essential roles in skin barrier formation and the regulation of inflammation. homeostasis regulates melanogenesis, although underlying mechanism remains largely unknown. Sterol regulatory element binding protein 1 (SREBP-1) is a key transcription factor for cellular lipid metabolism. Loss-of-function variants SREBF1 are responsible autosomal-dominant ichthyosis follicularis, alopecia photophobia syndrome, emphasizing significance keratinization....
Abstract Background/Objectives Epidemiologic studies of children with alopecia areata (AA) are sparse, and there no that focus on the youngest AA. Evaluation clinical presentations AA in <4 years age was performed order to identify prognostic factors for disease progression. Methods We a retrospective chart review 125 pediatric patients seen at Children's Hospital Philadelphia an initial presentation under 4. Disease severity measured using Severity Alopecia Tool (SALT) score...
Abstract Genodermatoses are inherited disorders with skin manifestations and can present multisystem involvement, resulting in challenges diagnosis treatment. To address this, the expertise of dermatology clinical genetics through a multidisciplinary clinic (Genodermatoses Clinic) were combined. A retrospective cohort study 45 children seen between March 2018 February 2019 Clinic at The Children's Hospital Philadelphia was performed. Patient demographics, referral information, genetic...
Abstract Poliosis is defined as the absence of melanin in hair, and hair graying typically occurs with reduction. can occur at any age but presents childhood certain genetic acquired conditions, many families seeking evaluation from a pediatric dermatologist. white restricted to location scalp. Children may also present reduction expected pigmentation, referred pigment dilution, or development graying. This review aims provide streamlined diagnostic approach for dermatologists when presented...
Abstract Background/Objectives The primary objective was to assess pain catastrophizing and functional disability in pediatric patients with epidermolysis bullosa (EB) their parents/guardians. Secondary objectives included examining relationships between catastrophizing, disability, correlations other factors (e.g., age, disease severity, percent of body surface area (BSA) involved). Methods Patients EB ages 8–16 parents/guardians who were English or Spanish speaking completed a one‐time...
Trichotillomania (TTM) is a complex disease with varying clinical characteristics, and psychosocial impairment noted in many TTM patients. Despite its prevalence childhood, there limited research on pediatric TTM.To analyze the epidemiologic features of children evaluated by dermatologists behavioral health specialists.We performed retrospective chart review 137 patients seen at Children's Hospital Philadelphia initial presentation age 17 or younger. Patients were treated dermatology...
The prevalence of memory complaints in patients with sleep apnea has important ramifications for patient care. We assessed this using a two-item screen and the Modified Telephone Interview Cognitive Status (TICS). Data from screening database multi-site study, Memories2, was used. Subjects ages 60-85 an AHI or REI≥15 events/hr answered two questions prior to their study: (1) “Does someone help you keep track your appointments medications?”; (2) “Do have, told that have problems thinking...