title: Junctional epidermolysis bullosa in two siblings: clinical observations, collagen studies and electron microscopy.
abstract: Two siblings with junctional epidermolysis bullosa are described: both survived beyond parturition. They were treated with the usual therapeutic doses of phenytoin, dapsone, prednisolone, and zinc supplements without effect. Investigation of the skin of one of the patients showed that his fibroblasts, collagen synthesis and collagenase levels were normal. In view of the normality of the collagenase levels, it is probably not surprising that phenytoin was ineffective. Electron microscopy demonstrated junctional cleavage without pathology in the dermis itself: abnormal hemidesmosomes were seen as described previously, though it is suggested that this is not the primary abnormality which results in the disease process.
mesh_terms: D002675:Child, Preschool; D003094:Collagen / Q000096:biosynthesis; D004817:Epidermis / Q000648:ultrastructure; D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000378:metabolism; D006801:Humans; D007365:Intercellular Junctions / Q000648:ultrastructure; D008297:Male; D003012:Microbial Collagenase / Q000378:metabolism; D008854:Microscopy, Electron
chemical_list: D003094:Collagen; D003012:Microbial Collagenase