title: [Hereditary bullous epidermolyses. Recent aspects of diagnosis and therapy].
abstract: The introduction of antibodies specific for distinct basement membrane zone components is helpful in the diagnosis of hereditary mechanobullous diseases. In addition, these reagents have implications for investigation of the pathogenesis of these disorders, which might help to establish the classification based on molecular defects. Antibodies by means of indirect immune fluorescent microscopy can play a key role in the differential diagnosis of junctional and dystrophic types of epidermolysis bullosa. In epidermolysis bullosa hereditaria dystrophica, a disturbance in the regulation of collagenase activity has already been well documented, and several therapeutic approaches have been carried out based on the inhibition of collagenase activity. Concomitant inhibition of collagenolytic activity and stabilization of collagen fibrils might furthermore be helpful in the treatment of these patients. There are already several reports on the therapeutic effects of collagenase inhibitors, and stabilization of collagen fibrils in vitro has been demonstrated by (+)-cyanidanol-3. The preliminary results on therapeutic application of this drug seem to be promising.
mesh_terms: D000911:Antibodies, Monoclonal; D000918:Antibody Specificity; D001324:Autoantigens / Q000276:immunology; D001485:Basement Membrane / Q000276:immunology; D002352:Carrier Proteins; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003094:Collagen / Q000276:immunology; D003598:Cytoskeletal Proteins; D003622:Dapsone / Q000627:therapeutic use; D000071821:Dystonin; D004820:Epidermolysis Bullosa / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D005455:Fluorescent Antibody Technique; D005808:Genes, Recessive; D006801:Humans; D007797:Laminin / Q000276:immunology; D003012:Microbial Collagenase / Q000037:antagonists & inhibitors / Q000235:genetics; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D010672:Phenytoin / Q000627:therapeutic use; D000097805:Collagen Type XVII
chemical_list: D000911:Antibodies, Monoclonal; D001324:Autoantigens; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D003622:Dapsone; D000071821:Dystonin; D007797:Laminin; D003012:Microbial Collagenase; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D010672:Phenytoin; D000097805:Collagen Type XVII; C486268:DST protein, human
vernacular_title: Hereditäre bullöse Epidermolysen. Neuere Aspekte zur Diagnostik und Therapie.