Pediatric Dermatology最新文献

Hyaline fibromatosis syndrome (HFS) is an autosomal recessive disorder caused by variants in the ANTXR2 gene. Clinically, HFS is characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures, and bone involvement in variable degrees. In this report, we present a 3-year-old Syrian boy with HFS, detailing his clinical and genetic profile, furthering the understanding of genotype-phenotype correlation in the ANTXR2 gene and HFS.

Angiokeratoma circumscriptum (AKC) is a rare congenital vascular malformation that often mimics other skin conditions such as verrucous venous malformation. We report a case of AKC in a 9-year-old male presenting with a pruritic, hyperkeratotic lesion growing proportionally to his body since birth. The diagnosis of AKC was determined based on a constellation of clinical findings, histopathologic examination with immunohistochemistry, and ultrasound technique. This case provides a photo representation of a rarely reported skin condition in a patient with skin of color and highlights the importance of using multiple diagnostic tools to distinguish AKC from other differential diagnoses.

Current treatment guidelines suggest that patients with moderate-to-severe atopic dermatitis (AD) should be treated with systemic therapies, but evidence on its effectiveness in Latin America is limited. A nationwide, web-based survey was distributed among dermatologists managing children and adolescents with moderate-to-severe AD treated with dupilumab in Argentina to characterize and describe children and adolescents with AD who received dupilumab in a real-world setting. Data from 41 patients (median age: 11.23 years; female: 56.1%) revealed that 61% had developed AD by the age of 1 year or younger; atopic comorbidities were present in 70.7% (asthma 48.8%); methotrexate was the most frequently prescribed systemic therapy (58.5%); the median age at dupilumab initiation was 10 years (interquartile range [IQR]: 6.5-15) and median treatment duration was 1 year (IQR: 0-2). We conclude that treatment with dupilumab was highly effective in controlling moderate-to-severe AD refractory to conventional, guideline-recommended systemic therapies, with adequate control in 87.8% of cases.

This study evaluated the feasibility, reproducibility, validity, and responsiveness of the Chromameter CR-400 for assessing erythema in infantile hemangiomas (IHs). Results demonstrated high inter- and intra-rater reliability and consistent measurement accuracy, outperforming a subjective visual analog scale (VAS) in detecting subtle changes. While limited by a small sample size, the chromameter CR-400 shows promise as an objective tool for monitoring IH progression and potentially treatment response.

Alopecia areata (AA) is a nonscarring, autoimmune hair disorder affecting approximately one in 1000 children and leads to considerable psychosocial distress. This pilot study evaluated the impact of "Hair Heroes," a 30-min educational curriculum aimed at enhancing middle school students' knowledge of and attitudes toward AA. Following the intervention, students demonstrated statistically significant improvements in understanding of AA (p < 0.001) and increased willingness to befriend a bald peer (p = 0.024), with over 75% reporting that the lesson was a meaningful addition to their education. These findings support the integration of targeted inclusivity curricula in school settings to reduce stigma and promote the psychosocial well-being of children affected by AA.

Epidermolysis bullosa simplex (EBS) is a genetic condition characterized by skin fragility and blistering due to minimal mechanical trauma. EBS-KLHL24, a rare subtype, arises from pathogenic variants in the KLHL24 gene and has unique clinical features, including systemic involvement. We present a case of a 16-year-old patient with EBS-KLHL24 exhibiting novel clinical findings, including significant oral blistering, hyperkeratotic papules, ocular involvement, and lichenified reticulate flexural scarring. This case expands the EBS-KLHL24 phenotype and highlights the importance of accurate diagnosis, early genetic confirmation, and multidisciplinary care to improve understanding of this disorder.