Digenic inheritance in epidermolysis bullosa simplex involving two novel mutations in KRT5 and KRT14

Epidermolysis Bullosa Simplex (EBS) is a heritable skin fragility disease most commonly caused by autosomal dominant mutations in the genes encoding keratin 5 and keratin 14 (KRT5 & KRT14)1. Keratin 5 and 14 dimerise to form intermediate filaments, which provide structure, strength and flexibility to the keratinocyte cytoskeleton. This article is protected by copyright. All rights reserved.