Generalized atrophic benign epidermolysis bullosa. Either 180-kd bullous pemphigoid antigen or laminin-5 deficiency.
BACKGROUND
Generalized atrophic benign epidermolysis bullosa (GABEB) is a form of nonlethal junctional epidermolysis bullosa, clinically characterized by generalized blistering after birth, atrophic healing, and incomplete universal atrophic alopecia with onset in childhood. Recently, we discovered a deficiency of the 180-kd bullous pemphigoid antigen (BP180) and a reduced amount of BP180 messenger RNA in three patients with GABEB. It is not yet clear, however, whether GABEB is invariably caused by BP180 deficiency.


RESULTS
We examined 18 patients with nonlethal junctional epidermolysis bullosa from unrelated families; nine of these individuals presented with the clinical characteristics of GABEB. Specimens of clinically normal skin obtained from the patients were stained by immunofluorescence with monoclonal antibodies to BP180 and laminin-5. The BP180 epitopes were not expressed in eight patients, all of whom were sharing the typical clinical features of GABEB. In one of the nine patients with GABEB, the BP180 level was sufficient, but the laminin-5 level was reduced. Among the nine patients with junctional epidermolysis bullosa without atrophic alopecia, laminin-5 level was not expressed in one patient, while in the other patients both antigens were normally expressed.


CONCLUSIONS
Not all patients with GABEB are deficient in BP180, since some individuals with GABEB only exhibit reduction of the laminin-5 expression. The BP180 deficiency in the skin invariably seems to result in GABEB. Immunofluorescence analysis using monoclonal antibodies against BP180 (and laminin-5) may allow early subtyping, which is of prognostic significance, in children born with junctional epidermolysis bullosa.
Jonkman
M F
MF
Department of Dermatology, Groningen University Hospital, The Netherlands.
de Jong
M C
MC
Heeres
K
K
Steijlen
P M
PM
Owaribe
K
K
Küster
W
W
Meurer
M
M
Gedde-Dahl
T
T
Sonnenberg
A
A
Bruckner-Tuderman
L
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D001324:Autoantigens / Q000276:immunology*; D002352:Carrier Proteins; D015815:Cell Adhesion Molecules / Q000302:isolation & purification; D002648:Child; D002675:Child, Preschool; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D016108:Epidermolysis Bullosa Dystrophica / Q000276:immunology* / Q000473:pathology; D000939:Epitopes; D005260:Female; D005455:Fluorescent Antibody Technique; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D012867:Skin / Q000276:immunology; D000097794:Kalinin; D000097805:Collagen Type XVII
D001324:Autoantigens; D002352:Carrier Proteins; D015815:Cell Adhesion Molecules; D003094:Collagen; D003598:Cytoskeletal Proteins; D000071821:Dystonin; D000939:Epitopes; D009419:Nerve Tissue Proteins; D024041:Non-Fibrillar Collagens; D000097794:Kalinin; D000097805:Collagen Type XVII; C486268:DST protein, human