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

<b>Background/Objectives</b>: Bullous congenital ichthyosiform erythroderma (BCIE) is an inherited keratinization disorder caused by pathogenic variants in specific genes. Here, we report a pair of half-siblings with BCIE and tinea capitis due to <i>Trichophyton rubrum</i> (<i>T. rubrum</i>) and then review the species of ichthyosis previously reported with <i>T. rubrum</i> infection. <b>Methods</b>: We performed dermatological examination, fungal culture, and genetic analysis using whole-exome sequencing (WES) and blocker displacement amplification (BDA)-based Sanger sequencing. Both patients received oral terbinafine once daily and topical bifonazole gel for tinea capitis. <b>Results</b>: The pair of half-siblings had exhibited generalized scaling and hyperkeratosis since birth. Both siblings subsequently developed scalp pustules and hair loss for several months. Genetic analysis identified a pathogenic variant in the keratin 10 (<i>KRT10</i>) gene, confirming BCIE diagnosis. Additionally, fungal culture revealed <i>T. rubrum</i> infection. The patients responded positively to oral terbinafine antifungal treatment. <b>Conclusions</b>: This case highlights the potential susceptibility of patients with BCIE to fungal infections, warranting clinical vigilance. Furthermore, it demonstrates the utility of the BDA-based mutation detection method for diagnosing BCIE, suggesting its promise for advancing personalized diagnosis and management in hereditary skin diseases.

Authors

Institutions

Publication Details

Journal
Biomedicines
Published
2025-08-19
DOI
https://doi.org/10.3390/biomedicines13082015
Primary Topic
Skin and Cellular Biology Research
Type
article
Field-Weighted Citation Impact
0.00

Funders

Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

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

Jipeng Liu, Ying Fu, Yunqing Ren, Yuxiang Yang et al.
Biomedicines
Skin and Cellular Biology Research
article

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

Jipeng Liu, Ying Fu, Yunqing Ren, Yuxiang Yang, Qihao Zhang, Yi Xue, Qi Chen
article en

Abstract

<b>Background/Objectives</b>: Bullous congenital ichthyosiform erythroderma (BCIE) is an inherited keratinization disorder caused by pathogenic variants in specific genes. Here, we report a pair of half-siblings with BCIE and tinea capitis due to <i>Trichophyton rubrum</i> (<i>T. rubrum</i>) and then review the species of ichthyosis previously reported with <i>T. rubrum</i> infection. <b>Methods</b>: We performed dermatological examination, fungal culture, and genetic analysis using whole-exome sequencing (WES) and blocker displacement amplification (BDA)-based Sanger sequencing. Both patients received oral terbinafine once daily and topical bifonazole gel for tinea capitis. <b>Results</b>: The pair of half-siblings had exhibited generalized scaling and hyperkeratosis since birth. Both siblings subsequently developed scalp pustules and hair loss for several months. Genetic analysis identified a pathogenic variant in the keratin 10 (<i>KRT10</i>) gene, confirming BCIE diagnosis. Additionally, fungal culture revealed <i>T. rubrum</i> infection. The patients responded positively to oral terbinafine antifungal treatment. <b>Conclusions</b>: This case highlights the potential susceptibility of patients with BCIE to fungal infections, warranting clinical vigilance. Furthermore, it demonstrates the utility of the BDA-based mutation detection method for diagnosing BCIE, suggesting its promise for advancing personalized diagnosis and management in hereditary skin diseases.

BiomedicinesVol. 13(8)
Children's Hospital of Zhejiang University (CN)
National Natural Science Foundation of China, Zhejiang University, Natural Science Foundation of Zhejiang Province
Openalex Percentile: Top 77%
Skin and Cellular Biology Research
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.