Localized variant of junctional epidermolysis bullosa with R795X mutation.

作者信息

Bighetti Stefano, Bettolini Luca, Rovaris Sara, Novelli Antonio, Incardona Paolo, Calzavara-Pinton Piergiacomo, Caravello Simone, Maione Vincenzo

机构信息

Dermatology Department, ASST Spedali Civili di Brescia, University of Brescia.

Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, Rome.

出版信息

Dermatol Reports. 2025 Aug 22;17(3). doi: 10.4081/dr.2025.10127. Epub 2025 Jan 8.

DOI:10.4081/dr.2025.10127

PMID:40844377

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12421532/

Abstract

Epidermolysis bullosa (EB) refers to a group of inherited disorders characterized by skin and mucous membrane fragility. This report presents the case of a 61-year-old Italian male with a localized variant of junctional epidermolysis bullosa (JEB) linked to the R795X mutation in the COL17A1 gene. The patient presented with bullous lesions, erosions, scars, and pigmentary changes on the pretibial areas and dystrophic nails. Genetic analysis confirmed the presence of the COL17A1 variant p.Arg795Ter (R795X) mutation, establishing a rare, localized variant of JEB. This case underscores the criticality of early and accurate diagnosis in the management of rare genetic disorders, as misdiagnosis can lead to ineffective treatments.

摘要