271 From clinical to genotypic modeling: Recessive Dystrophic Epidermolysis Bullosa (RDEB)

Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a severe genetic disorder characterized by large recurrent and chronic open wounds. RDEB patients lack functional type VII collagen (C7) owing to mutations in the gene COL7A1, the main component of anchoring fibrils (AF) required for epidermal-dermal cohesion. Over 700 alterations in COL7A1 have been reported to cause Dystrophic Epidermolysis Bullosa (DEB), which may be autosomal dominant or recessive. The most common subtypes are dominant DEB (DDEB), recessive DEB severe (RDEB-GS), and recessive DEB generalized other (RDEB-GO).

Source: Journal of Investigative Dermatology - April 19, 2019 Category: Dermatology Authors: J. Tang, D. Solis, Z. Siprashvili, N. Whitehead, M. Schu, F. Fang, S. Erickson, M. Ritchey, M. Colao, M. Tyrpien, C. Rouhandeh, K. Spratt, M. Ahn Tags: Epidemiology Source Type: research