Pediatric Dermatology最新文献

We report on a 13-year-old boy diagnosed with hypohidrotic ectodermal dysplasia (HED) due to a pathogenic variant in ectodysplasin A (EDA). He exhibited multiple whitish, millimetric papules clustered on the nasal ala, forehead, temporal, and zygomatic arch areas. Histological examination revealed numerous hyperplastic sebaceous lobules within the upper dermis. The occurrence of sebaceous papules in this distribution among HED patients has rarely been reported. An association with the blockage of the Wnt/β-catenin pathway due to EDA malfunction has been speculated.

A 13-year-old male presented with a 2-year history of recurrent aphthous stomatitis. The patient had undergone several unsuccessful treatments, leading to the decision to initiate apremilast. He showed a good clinical response with reduction in outbreaks, and no adverse effects were observed. This is the first report, to our knowledge, of a pediatric patient treated with apremilast for this indication.

Pediatric dermatologists are frequently consulted to evaluate children for cutaneous signs of systemic disorders. Numerical thresholds of significance have been described in the dermatologic literature for various skin findings where the likelihood of an associated extracutaneous abnormality or known genetic syndrome increases significantly. Knowledge of these numerical thresholds facilitates diagnosis and management, which improves clinical outcomes and avoids severe complications. This review highlights the clinical presentation, complications, evaluation, and numerical significance, when applicable, for the following skin findings: infantile hemangiomas, capillary malformations, café-au-lait macules, hypopigmented macules, juvenile xanthogranulomas, pilomatricomas, and angiofibromas.

The characteristics of epidermolysis bullosa (EB) demand higher than average provider support for transition from pediatric to adult care. We administered an online Qualtrics survey to members of the Epidermolysis Bullosa Clinical Research Consortium (EBCRC), a group of providers who care for patients with EB, in order to examine their practices and perspectives on transition of care (TOC) and identify barriers to successful implementation. Sixteen of eighteen medical centers completed the survey. Eighty-eight percent of center representatives expressed concerns about their patients transitioning/transferring from the pediatric to adult-centered care. Thirty-eight percent of providers reported having a formal TOC program in place. Our findings support the desire for formal TOC programs, the need for a team-based approach and, in particular, identification of adult providers to participate in the transition to improve this often challenging time.

Janus kinase inhibitors (JAKi) are drugs that block tyrosine kinases responsible for transducing cytokine signals. The first JAKi was approved by the US Food and Drug Administration (FDA) in 2011 to treat rheumatoid arthritis in adults. A pediatric indication was not approved until 8 years later, for acute graft-versus-host disease. Since then, topical and oral formulations have gained FDA approval for pediatric patients with dermatologic diseases. While increasing evidence supports the safety of these medications in adults, data are limited in children. We sought to determine whether JAKi adverse events (AEs) as reported in clinical trials and via postapproval pharmacovigilance services are comparable in adult and pediatric patients. Pharmacovigilance data were extracted from the FDA's Adverse Event Reporting System and the Canada Vigilance Adverse Reaction Online Database for baricitinib, upadacitinib, abrocitinib, ruxolitinib, and tofacitinib. The pooled data were analyzed to detect the most common AEs for specific JAKi and for the drug class. We assessed 399,649 AEs from 133,216 adults and 2883 AEs from 955 patients under 18 years old and identified slightly different AE profiles for the two age groups. Both populations had increased risk for infections and gastrointestinal AEs. However, pediatric patients reported a higher proportion of blood and lymphatic disorders, while reports of nervous system and musculoskeletal/connective tissue disorders were more common in adults. The spectrum of AEs extracted from pharmacovigilance reports was similar to clinical trials. The JAKi AE profiles we observed may prove helpful in counseling patients and their parents before starting therapy and for monitoring once patients are on therapy.

Objectives: To explore the dermoscopic features of lichen sclerosus in different parts of the external genitalia in children.

Methods: A retrospective analysis of the dermoscopic features of 42 female children with vulvar lichen sclerosus treated in the Department of Dermatology of Shanxi Children's Hospital from January 2020 to May 2023.

Results: Among the 42 female children, aged 3-14 years (mean: 7.24 ± 2.43 years), the duration of vulvar lichen sclerosus ranged from 3 months to 2 years (mean: 9.83 ± 4.93 months). Clinical lesions occurred in the labia minora in 18 cases (42.9%), labia majora in 38 cases (90.5%), posterior fourchette in 36 cases (85.7%), perianal area in 13 cases (31.0%), anterior fourchette in 17 cases (40.5%), clitoris in seven cases (16.7%), and interlabial sulcus in 11 cases (26.2%). Dermoscopic findings common in the labia majora included follicular keratotic plugs, cloverleaf-like structures, comedo-like openings, and linear vessels (p < .05); however, purple-red globules and patches and white linear streaks were more common in the posterior fourchette (p < .05), whereas dotted vessels were more common in the labia minora (p < .05).

Conclusions: Common dermoscopic findings in pediatric vulvar lichen sclerosus were yellow-white structureless areas, white linear streaks, follicular keratotic plugs, and cloverleaf-like structures; yellow-white structureless areas and white linear streaks showed the highest specificity. The dermoscopic findings varied among different affected areas, which provides a basis for further understanding of the characteristics of different sites of vulvar lichen sclerosus in the pediatric population.

A 16-year-old girl developed prurigo pigmentosa (PP) following initiation of a ketogenic diet, presenting with pruritic, erythematous, and brownish papules exclusively on her upper extremities. Histopathological examination revealed mild spongiosis with perivascular neutrophilic and mononuclear cell infiltrate, confirming the diagnosis of PP. Treatment with oral doxycycline and discontinuation of the ketogenic diet led to lesion resolution within one month, with subsequent postinflammatory hyperpigmentation. This case highlights the rarity of PP presenting solely on the upper extremities in pediatric patients, expanding our understanding of this dermatological disease.

Telomere biology disorders (TBD) are a complex set of inherited illnesses characterized by short telomeres. Dyskeratosis congenita (DC), which is now considered a severe TBD phenotype, is characterized by reticulated pigmentary changes, nail dystrophy, premalignant oral leukoplakia, and systemic involvement. This case describes a 2-year-old female with reticulated pigmentary changes and Terry's nails who was found to have a TERT variant and short telomeres; she lacked other mucocutaneous and systemic features of TBD. This report describes a unique clinical presentation of TBD and highlights the importance of upholding suspicion for TBD in individuals with limited or subtle features of classic DC.