Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa.
Type VII collagen, the major structural component of the anchoring fibrils, was assayed in normal unaffected skin of patients with different forms of hereditary epidermolysis bullosa. Immunofluorescence staining with affinity-purified polyclonal antibodies to type VII collagen revealed a complete absence of staining in the skin of patients with severe dystrophic recessive epidermolysis bullosa. In all other forms, localized recessive dystrophic, dominant dystrophic, junctional and simplex forms there was an intense continuous linear staining of type VII collagen at the dermoepidermal junction. Also, obligate heterozygote carriers of the gene for severe dystrophic recessive form showed a normal pattern of staining. As internal controls and to define the clinical diagnosis, staining with antibodies to type IV collagen, laminin and bullous pemphigoid antigen was also performed. All these antibodies showed a normal staining pattern indicating an intact general morphology of the dermoepidermal junction zone. These results suggest that there is a defect of type VII collagen in patients with severe recessive dystrophic epidermolysis bullosa. The data also suggest that the group of recessive dystrophic epidermolysis bullosa may be heterogeneous not only clinically, but also at the molecular level.
Bruckner-Tuderman
L
L
Department of Dermatology, University Hospital, Zürich, Switzerland.
Rüegger
S
S
Odermatt
B
B
Mitsuhashi
Y
Y
Schnyder
U W
UW
D000293:Adolescent; D000328:Adult; D001324:Autoantigens / Q000032:analysis / Q000276:immunology; D002352:Carrier Proteins; D002648:Child; D003094:Collagen / Q000172:deficiency* / Q000276:immunology; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D004820:Epidermolysis Bullosa / Q000145:classification / Q000235:genetics* / Q000473:pathology; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007797:Laminin / Q000032:analysis / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII
D001324:Autoantigens; D002352:Carrier Proteins; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D007797:Laminin; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097805:Collagen Type XVII; C486268:DST protein, human