Fibroblast-based cell therapy strategy for recessive dystrophic epidermolysis bullosa.

Dystrophic epidermolysis bullosa (DEB) is a severe skin fragility disorder associated with trauma-induced blistering, progressive soft tissue scarring, and increased risk of skin cancer. DEB is caused by mutations in the COL7A1 gene which result in reduced, truncated, or absent type VII collagen, and anchoring fibrils at the dermal-epidermal junction (DEJ). Because no topical wound-healing agents have shown unequivocal benefit in the treatment of DEB, alternative approaches are needed. The purpose of cell therapy for recessive DEB is to increase the amount of collagen VII in the basement membrane zone in order to heal wounds and prevent further wound formation. Fibroblast-based cell therapy is safe and easy to work with, has few side effects, can dramatically restore stable collagen VII at the DEJ, and can normalize the substructure changes of DEB for at least a few months. Even though the mechanism and the duration of newly produced collagen VII at the DEJ are still unknown, this form of cell therapy provides a new effective approach to the treatment of recessive DEB.