Amino acid charge and epidermolysis bullosa simplex severity: Genotype‐phenotype correlations

Amino acid charge and epidermolysis bullosa simplex severity: Genotype‐phenotype correlations:

Abstract

Epidermolysis bullosa simplex (EBS) is a genetic skin disorder characterized by mechanical fragility and blistering of the skin. Localized EBS (EBS‐loc: OMIM 131800) is the mildest variant, with blistering occurring only in the hands and feet. EBS is mainly caused by autosomal dominant mutations in the KRT5 or KRT14 gene, encoding keratin 5 (K5) or keratin 14 (K14), respectively. Here, we report a patient with EBS‐loc harboring a novel mutation in KRT5, highlighting that changes affecting the charge of amino acids may impact clinical severity.