Collagen biosynthesis in a case of epidermolysis bullosa dystrophica recessiva

Abstract

Collagen metabolism was studied in fibroblast cultures from a patient presenting an epidermolysis bullosa dystrophica recessiva (EBDR) syndrome characterized, in particular, by blistering below the basal lamina observed by electron microscopy. The previously described increase in collagen production was confirmed and several other qualitative modifications of the secreted collagen were observed, including an underhydroxylation of lysine, a decrease in the type III/type I collagen ratio, and an increase in the rapidly degraded collagen. On the other hand, these fibroblasts were able to organize and contract collagen to form a dermal equivalent like normal fibroblasts. Normal keratinocytes can grow and form an epidermal sheet on the surface of these dermal equivalents including normal or pathological fibroblasts.