Pediatric Dermatology | 2021
Epidermolysis bullosa simplex due to bi‐allelic DST mutations: Case series and review of the literature
Abstract
Epidermolysis bullosa simplex (EBS) is a heterogeneous group of inherited disorders characterized by skin fragility due to intraepidermal separation. Most cases result from heterozygous mutations in KRT5 or KRT14; however, a minority of affected individuals carry mutations in non‐keratin genes including DST encoding an epithelial isoform of dystonin. DST‐associated EBS is transmitted as an autosomal recessive trait. Here, we report a series of EBS patients carrying bi‐allelic DST mutations and review previously reported cases aiming to delineate phenotype‐genotype correlations.