A novel mutation of COL7A1 in a Chinese DEB‐Pt family and review of the literature

Abstract

Pretibial dystrophic epidermolysis bullosa (DEB‐Pt) is an extremely rare subtype of dystrophic epidermolysis bullosa (DEB) characterized by blistering and scar formation. The pathogenesis of the disease is mainly due to the mutation of COL7A1 gene encoding type VII collagen fibers, resulting in the destruction of the anchoring structure of the epidermis and dermis.