Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

The use of marrow stem cells to treat seven children with severe epidermolysis bullosa caused by loss-of-function mutations in COL7A, the gene encoding type VII collagen (C7), was examined. The investigators observed increases in C7 deposition, the presence of donor cells in the skin, and an amelioration of symptoms. Loss of skin integrity that leads to trauma-induced blisters and erosions is a defining feature of epidermolysis bullosa, a heterogeneous group of more than 20 inherited blistering diseases with highly variable clinical severity. 1 One of the most severe forms is recessive dystrophic epidermolysis bullosa, caused by loss-of-function mutations in the collagen type VII (C7) gene ( COL7A1 ). 2 – 6 These mutations result in severely diminished expression of C7, a collagen localized at the dermal–epidermal junction. C7 is the major component of the anchoring fibrils that tether the epidermal basement membrane to the dermal matrix. In the absence of normal C7 . . .