Stigmatization and Mental Health Impact of Chronic Pediatric Skin Disorders.

Importance: 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.

Objective: 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.

Management of Atopy with Dupilumab and Omalizumab in CADINS Disease.

The caspase activation and recruitment domain 11 (CARD11) gene encodes a scaffold protein required for lymphocyte antigen receptor signaling. Dominant-negative, loss-of-function (LOF) pathogenic variants in CARD11 result in CARD11-associated atopy with dominant interference of NF-κB signaling (CADINS) disease. Patients with CADINS suffer with severe atopic manifestations including atopic dermatitis, food allergy, and chronic spontaneous urticaria in addition to recurrent infections and autoimmunity.

Risk factors and outcomes of melanoma in children and adolescents: A retrospective multicenter study.

Background: Pediatric melanoma presents with distinct clinical features compared to adult disease.

Objective: Characterize risk factors and negative outcomes in pediatric melanoma.

Methods: Multicenter retrospective study of patients under 20 years diagnosed with melanoma between January 1, 1995 and June 30, 2015 from 11 academic medical centers.

Profiling variants in disorders of somatic mosaicism.

Purpose: Variants in (encoding p110α; the catalytic subunit of PI3K) characterize some disorders of somatic mosaicism (DoSM) conditions with clinical features, including sporadic overgrowth and vascular malformations. Here, we profile variants in DoSM.

Methods: We applied a next-generation, sequencing-based, laboratory-developed test, using an average coverage of approximately 2000× for up to 37 genes associated with DoSM, on a cohort of 1197 patients with DoSM referred for clinical genomics services between 2013 and 2022.

Proceedings of the 10th Pediatric Dermatology Research Alliance (PeDRA) Annual Conference.

The 10th Pediatric Dermatology Research Alliance (PeDRA) Annual Conference occurred November 3-5, 2022 in Bethesda, Maryland. This conference was the first in-person PeDRA conference after 2 years of a virtual format due to COVID-19. Fittingly, given the effects of the pandemic, the conference theme was "Reimagining Community.

Health literacy in pediatric dermatology: challenges and opportunities.

Purpose Of Review: Health literacy influences how children and families participate in their medical care, use health services, and overall health outcomes. Health literacy is underexplored in pediatric dermatology. In this scoping review, we provide examples of how limited health literacy can be a barrier to patient care in pediatric dermatology and how to mitigate its effects.

A comparative analysis of RAS variants in patients with disorders of somatic mosaicism.

Purpose: RAS genes (HRAS, KRAS, and NRAS) are commonly found to be mutated in cancers, and activating RAS variants are also found in disorders of somatic mosaicism (DoSM). A survey of the mutational spectrum of RAS variants in DoSM has not been performed.

Methods: A total of 938 individuals with suspected DoSM underwent high-sensitivity clinical next-generation sequencing-based testing.

Tumor predisposition: what's the skin got to do with it?

Purpose Of Review: Recognition of skin findings associated with tumor predisposition syndromes can prompt early evaluation and surveillance and improve management. Additionally, knowing when to test and when to defer performing genetic testing can streamline management. This article reviews tumor predisposition syndromes with recently characterized skin findings and disorders for which early recognition and counseling can impact the course of disease.

Recurrent Onychomadesis of the Toenails in Children and Adults: A Case Series.

Introduction: Onychomadesis occurs when the nail plate separates from the nail matrix and nail bed, eventually leading to shedding of the nail. This condition has been attributed to viral infections, autoimmune disorders, drug side effects, and physical trauma. A subset of patients has a recurrent form of onychomadesis without a clear trigger; this phenomenon is not well characterized in the literature.

Care of Congenital Melanocytic Nevi in Newborns and Infants: Review and Management Recommendations.

A pediatric dermatology expert working group performed a narrative review to describe care related to congenital melanocytic nevi (CMN) in neonates and infants. There are no published guidelines for most aspects of care, including routine skin care and visit intervals. Few guidelines exist for surgical management; newer recommendations favor conservative practice.

Changes in Product Use and Quality of Life After Patch Testing in Children With Allergic Contact Dermatitis: A Follow-up Survey.

Background: Patch testing is the standard to diagnose allergic contact dermatitis (ACD).

Objective: This study assessed the value of patch testing for product changes and quality of life in children with ACD.

Methods: In this cross-sectional survey, we used a questionnaire to follow up with families of ACD patients about changes since patch testing and counseling preferences.

Shared decision making in pediatric dermatology: context, opportunities, and practical examples.

Purpose Of Review: Shared decision making (SDM) is an important part of patient-centered care. However, it is neither widely practiced nor researched in pediatric dermatology. In this article, we provide practical examples of how to engage in SDM in pediatric dermatology, and identify future areas of research.

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.

Purpose: Somatic activating variants in the PI3K-AKT pathway cause vascular malformations with and without overgrowth. We previously reported an individual with capillary and lymphatic malformation harboring a pathogenic somatic variant in PIK3R1, which encodes three PI3K complex regulatory subunits. Here, we investigate PIK3R1 in a large cohort with vascular anomalies and identify an additional 16 individuals with somatic mosaic variants in PIK3R1.

Cutaneous reactions to pediatric cancer treatment part II: Targeted therapy.

Cancer remains a leading cause of morbidity and mortality among children. Targeted therapies may improve survivorship; however, unique side-effect profiles have also emerged with these novel therapies. Changes in hair, skin, and nails-termed dermatologic adverse events (AEs)-are among the most common sequelae and may result in interruption or discontinuation of therapy.

Cutaneous reactions to pediatric cancer treatment: Part I. Conventional chemotherapy.

Chemotherapies often cause side effects of the skin, nails, and mucosal surfaces. These mucocutaneous toxicities contribute to morbidity and affect quality of life. Identification and management of these drug-induced eruptions is vital to allow for continuation of essential therapies.

Post-transplant malignancies in pediatric organ transplant recipients.

The majority of cancer diagnoses in pediatric solid organ transplant recipients (SOTRs) are post-transplantation lymphoproliferative disorders (PTLD) or skin cancers. However, pediatric SOTRs are also at significantly elevated risk for multiple other solid and hematological cancers. The risks of specific cancers vary by transplanted organ, underlying disease, and immunosuppression factors.