Abstract:Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic skin disease caused by loss of function mutations in the gene encoding type VII collagen (COL7A1). RDEB is characterized by trauma induced wounds and excessive scarring, and one of the most frequent complications in RDEB is the development of fatal squamous cell carcinoma (SCC). Our published and unpublished data show that TGF-beta signaling is increased in RDEB, and others have shown that TGF-beta is a major disease modifier. We previously de… Show more
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