A Novel Mutation of KRT14 Gene in a Newborn with Epidermolysis Bullosa Simplex (Dowling-Meara Type): Case Report

초록

Epidermolysis bullosa simplex (EBS) is a group of inherited skin diseases characterized by intraepidermal blistering upon mild trauma. They are classified into three major types based on the severity and distribution of blisters, age of onset, and histological findings. These three major types are caused by KRT5 and KRT14 gene mutations. EBS Dowling-Meara (DM) is one of the most severe subtypes which mostly affects neonates. Electron microscopy is a primary diagnostic tool for EBS; however, mutation analysis has recently become more important for its diagnosis, prognosis, genetic counselling, and prenatal diagnosis. Several studies have reported that almost all mutations in EBS-DM patients are found in the highly conserved rod domains of the KRT5 and KRT14 genes and have also demonstrated a genotype-phenotype correlation. Here, we report an EBS-DM case diagnosed by mutation analysis in a newborn and a missense mutation not identified in humans previously.

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