Loading...
Epidermolysis bullosa comprises a group of more than 20 blistering diseases characterized by skin fragility. It is caused by mutations in 1 of 14 genes encoding proteins of the dermal–epidermal junction (DEJ). One of the most severe forms is recessive dystrophic epidermolysis bullosa (RDEB), caused by COL7A1 mutations leading to absence of type VII collagen and anchoring fibrils. Patients with RDEB have continuous blistering of the skin and mucosa, extensive scarring, mutilating hand deformities, esophageal strictures, and aggressive squamous-cell carcinomas. Treatment is primarily palliative.
Previous research in a mouse model of RDEB showed increased collagen VII in skin and mucosa, prolonged survival, and decreased blistering following bo…