Large intragenic deletion of KRT14 causes autosomal-dominant epidermolysis bullosa simplex with generalized hyperpigmentation

Epidermolysis bullosa (EB) comprises a heterogeneous group of rare hereditary genodermatoses characterized by increased mucocutaneous fragility and blisters induced by mild trauma. EBS is the most common type, exhibiting skin blistering within the basal or suprabasal layer of the epidermis[1]. Up to now, more than 75% of EBS cases can be ascribed to heterozygous or homozygous variants in KRT5 (OMIM # 148040) and KRT14 (OMIM # 148066)[1]. Herein, we present two patients in a family with autosomal-dominant EBS with hyperpigmentation harboring a previously unreported heterozygous large deletion of KRT14.
Source: Journal of Dermatological Science - Category: Dermatology Authors: Source Type: research