JAAD Case Reports | 2021
Novel heterozygous COL7A1 mutation in a patient with de-novo dominant dystrophic epidermolysis bullosa pruriginosa
Abstract
DEB: dystrophic epidermolysis bullosa INTRODUCTION Dystrophic epidermolysis bullosa (DEB) is a blistering disease linked to a mutation in the COL7A1 gene, which encodes for type VII collagen, a major component of anchoring fibrils. DEB is due to an autosomal dominant or autosomal recessive mutation; the former is commonly associated with a milder form of the disease than the latter. The mutation can be sporadic or hereditary. The common cause of mutation in autosomal dominant DEB is often a heterozygous mutation, which results in an atypical conformation of the anchoring fibrils, thus preventing adhesion of the basement membrane to the dermis. Herein, we report a case with a novel mutation leading to autosomal dominant DEB.