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 ch aracterized by generalized blistering after birth, atrophic healing, a nd incomplete universal atrophic alopecia nith onset in childhood. Rec ently, we discovered a deficiency of the 180-kd bullous pemphigoid ant igen (BP180) and a reduced amount of BP180 messenger RNA in three pati ents with GABEB. It is not yet clear, however, whether GABEB is invari ably caused by BP180 deficiency. Results: We examined 18 patients with nonlethal junctional epidermolysis bullosa from unrelated families; n ine of these individuals presented with the clinical characteristics o f GABEB. Specimens of clinically normal skin obtained from the patient s were stained by immunofluorescence with monoclonal antibodies to BP1 80 and laminin-5. The BP180 epitopes were not expressed in eight patie nts, 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 ju nctional epidermolysis bullosa without atrophic alopecia, laminin-5 le vel 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 e xhibit reduction of the laminin-5 expression. The BP180 deficiency in the skin invariably seems to result in GABEB. Immunofluorescence analy sis using monoclonal antibodies against BP180 (and laminin-5) may allo w early subtyping, which is of prognostic significance, in children bo rn with junctional epidermolysis bullosa.