Recessive dystrophic epidermolysis bullosa (RDEB) manifests with blistering and erosions of the skin mucous membranes due to mutations in COL7A1. The repetitive wounding healing processes lead extensive cutaneous scarring. scarring is driven by inflammatory processes, particularly TGF-b signaling pathways, resulting deposition extracellular matrix, especially collagen. There currently no effect...

Fibroblast cultures from patients with recessive dystrophic epidermolysis bullosa (RDEB) demonstrated an increased capacity to synthesize and secrete collagenase. This phenotypic trait appeared to distinguish RDEB from other genetically distinct forms of epidermolysis bullosa. The finding of increased collagenase may be a specific manifestation of these cells in that prototypic lysosomal and cy...