A wide variety of loss-of-function mutations in the gene encoding type VII collagen, COL7A1, cause RDEB [8] and lead to a spectrum of severity encompassing skin blistering with mucosal involvement, extensive scarring in response to wound healing, nail dystrophy, alopecia, mitten deformities of the hands and feet, and a significant risk of developing life threatening skin cancer [9]. The gene discussed is COL7A1; the disease is recessive dystrophic epidermolysis bullosa.