Abstract:Recessive dystrophic epidermolysis bullosa (RDEB) is the most severe form of epidermolysis bullosa, a group of genetic skin fragility disorders. Blisters, skin erosion, and scars form all over the body, including mucous membranes in patients with RDEB. The pathogenesis of RDEB involves mutations of the COL7A1 gene encoding type VII collagen, the main constituent of anchoring fibrils that attach the epidermis to the dermis. Persistent skin erosion frequently results in intractable ulcers. As the ulcers heal, th… Show more
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