English

Abstract

INTRODUCTION: Dominant dystrophic Epidermolysis Bullosa (EB) is a subtype of dystrophic type of Epidermolysis Bullosa. Dystrophic EB are caused by mutations in a single gene, COL7A1, which encodes the anchoring fibril protein, type VII collagen. Immunofluorescence staining of the skin of patients using antitype VII collagen antibodies showed that the normal bright linear staining is absent in severe generalized recessive dystrophic EB, but present in dominant dystrophic EB.[1-3] The main feature of dominant dystrophic EB is that the skin is generally less fragile than in severe generalized recessive dystrophic EB. Blisters usually follow sharp knocks or glancing blows rather than mild friction, Blisters mainly occur in skin overlying bony prominences, such as the knees, ankles and dorsa of the hands or feet. The most consistent findings are localized scarring with milia formation and dystrophic nails. Nail dystrophy is probably the most important diagnostic feature of the disease, especially in adults, because many patients have only limited scarring, which becomes less noticeable with age.