The use of hematopoietic cell transplantation (HCT) has previously been shown to ameliorate cutaneous blistering in pediatric patients with recessive dystrophic epidermolysis bullosa (RDEB), an inherited skin disorder that results from loss-of-function mutations in COL7A1 and manifests as deficient or absent type VII collagen protein (C7) within the epidermal basement membrane. Here, COL7A1 is linked to recessive dystrophic epidermolysis bullosa.