Pediatric Dermatology最新文献

Juvenile xanthogranulomas (JXGs) are benign solitary or multiple lesions that present as yellow-red nodules on the skin or other organs, with histology demonstrating normolipidemic, non-Langerhans cell histiocytosis. We present a case of a clinically atypical lesion shown to be of the JXG family of lesions following pathologic review. Next-generation sequencing (NGS) analysis revealed a MRC1::PDGFRB gene fusion. This is the third report of the MRC1::PDGFRB gene fusion identified in JXG, and the first case of an isolated cutaneous lesion, which highlights the spectrum of the MRC1::PDGFRB gene fusion in JXG.

An 8-year-old female developed fever, dyspnea, and cough 1 week after starting ustekinumab for psoriasis. She was noted to have recurrent left lower lobe consolidation and subsequent obstructing eosinophilic casts and was diagnosed with eosinophilic plastic bronchitis. Her respiratory symptoms improved with systemic steroids, mepolizumab for 10 months, and discontinuing ustekinumab. Eosinophilic pneumonia/eosinophilic plastic bronchitis has been rarely reported as an adverse effect of ustekinumab in adults; to our knowledge, it has not previously been reported in children on ustekinumab for a dermatologic indication.

In January 2021, the Centers for Medicare and Medicaid Services (CMS) implemented changes that increased work relative-value units (wRVUs) for outpatient evaluation and management (E/M) services, potentially benefiting cognitive specialties such as pediatric dermatology. This cross-sectional study analyzed 230,524 dermatology outpatient encounters across pediatric, general adult, and micrographic surgery and dermatologic oncology (MSDO) providers at a large academic health system in 2019 and 2021 to assess the impact of these changes. We found that mean wRVUs per encounter increased in pediatric and adult dermatology and decreased for micrographic surgery after the CMS revision (pediatric: 1.3-1.9, p < 0.01; adult: 1.8-2.2, p < 0.01; MSDO: 12.9-12.6, p = 0.048). Both pediatric and adult dermatologists shifted toward billing higher-level E/M codes after the 2021 reforms. These findings suggest that the 2021 CMS reforms modestly narrowed, but did not eliminate-longstanding reimbursement disparities between cognitive and procedural dermatology practices.

Psoriasis is a skin disease characterized by erythematous and scaly lesions, influenced by genetic and environmental factors. Hirschsprung disease (HD) is a congenital disorder associated with gut microbiome dysbiosis, which can trigger inflammatory skin conditions. We report a case of psoriasis vulgaris in a male infant with HD whose skin lesions completely resolved after HD treatment. This case highlights a potential link between HD-related gut dysbiosis and psoriasis.

Dystrophic epidermolysis bullosa (DEB) is a rare, inherited blistering skin disease with limited treatment options. Beremagene geperpavec (B-VEC) is a herpes simplex virus type 1-based topical gene therapy that is approved by the Food and Drug Administration (FDA) for the treatment of DEB at a fixed weekly dose. While B-VEC has shown significant promise in treating DEB, few studies have examined off-label use of B-VEC at higher dose volumes. We describe the successful off-label use of a temporarily increased B-VEC dose in a patient with recessive DEB (RDEB) with extensive wounds following an episode of acute urticaria, highlighting the potential utility of higher dose B-VEC in managing patients with extensive wound burden.

Background/objectives: Capillary malformations (CMs) are congenital malformations of capillaries typically visible as blanchable, pink to brown patches on the skin and/or mucosa. The genetic cause of CMs guides diagnosis, treatment, and recurrence counseling. However, identification may be limited by the availability of samples, the type of tests, and insurance coverage. We hypothesize that there are distinct dermoscopic features associated with specific genotypes of congenital CMs.

Methods: A single-center, retrospective cohort study of 22 patients with CMs affecting the skin, a polarized dermoscopic photo of the lesion, and a single nucleotide variant in the EPHB4, GNA11/GNAQ, PIK3CA/PIK3R1, or RASA1 genes was performed. Three reviewers analyzed dermoscopic photos for the presence of apparent vessels, branching, lacunae, geometric shape formation, zones of dropout, follicle-sparing, vessel and background color, and length and width of vessels when discernable. Features were categorized by genotype.

Results: EPHB4-CMs have visible lengthwise and widthwise cross sections of vessels that exhibit branching. RASA1-CMs generally present with merely a red/pink/brown hue without visible vessels. GNA11 or GNAQ-CMs generally present with pink coloration and generally only with visible widthwise cross sections of vessels without branching. Geometric PIK3CA-CMs exhibit distinct purple lacunae that indicate a lymphatic component, but the reticulated PIK3CA-CMs otherwise demonstrate a varied presentation.

Conclusion: Our research identified distinct genotype-phenotype correlations for CMs by dermoscopy. Dermoscopy can narrow the differential diagnosis, guide genetic testing, and aid in the interpretation of variants of uncertain significance (VUS). This study demonstrates that dermoscopy holds promise in aiding genetic diagnosis and ultimately medical management.

Generalized pustular psoriasis is uncommon in children and therapy is typically with systemic agents. While many drugs like oral retinoids, cyclosporine, methotrexate, and spesolimab are used, colchicine is a safe and underutilized drug that acts by inhibition of neutrophils and the TNF-α-NF-kβ pathway. We report a case of a 10-year-old with generalized pustular psoriasis refractory to cyclosporine and methotrexate who achieved complete remission within 6 weeks of colchicine monotherapy.