Bone marrow stem cell therapy for recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited blistering disease caused by mutations in the type VII collagen gene, resulting in defective anchoring fibrils at the epidermal-dermal junction. At present, no curative treatment for RDEB exists. Mounting evidence on reprogramming of bone marrow stem cells into skin has prompted the authors and others to develop novel strategies for treatment of RDEB. The rationale for bone marrow stem cell therapies for RDEB is based on the evidence that bone marrow-derived cells are guided into becoming skin cells, given the right microenvironment. Preclinical studies in mouse models have shown that wild-type bone marrow-derived cells can ameliorate the phenotype of RDEB and improve survival by restoring the expression of type VII collagen and the anchoring fibrils. At present, several clinical studies are ongoing around the world to study the therapeutic effects of bone marrow stem cell transplantation for RDEB. These studies provide a framework for future development of standardized, effective methods for stem cell transplantation to cure severe inherited skin diseases, including RDEB.