Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton Rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection
August 2025
in “
Biomedicines
”
Studysummary In this case report, half-siblings with bullous congenital ichthyosiform erythroderma were found to have a susceptibility to Trichophyton rubrum infection, successfully treated with oral terbinafine.
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This study reports a rare case of bullous congenital ichthyosiform erythroderma (BCIE) in half-siblings, complicated by a Trichophyton rubrum infection leading to alopecia. The siblings, who had generalized scaling and hyperkeratosis since birth, developed scalp pustules and hair loss. Genetic analysis identified a pathogenic variant in the KRT10 gene, suggesting maternal germline mosaicism. Both siblings responded positively to an 8-week course of oral terbinafine, resolving inflammation and pustules, though alopecia persisted. The study underscores the increased susceptibility of BCIE patients to fungal infections and highlights the utility of Blocker Displacement Amplification for detecting mosaic mutations, emphasizing its potential in personalized diagnosis and management of hereditary skin diseases.
