Abstract: Objective To report a pedigree of generalized atrophic benign epidermolysis bullosa (GABEB),a special type of junctional epidermolysis bullosa(JEB). This is the first case report in China. Methods The clinical, histologic, electron microscopic, and immunofluorescence changes of the disease were evaluated. Results Besides the symptom of inherited epidermolysis bullosa, the patient had special clinical manifestations such as atrophic alopecia and dental dysplasia. The disease was inherited in an autosomal recessive mode in this pedigree. Electron-microscopy found the fissure in lamina lucida, accompaning with dysplasia and sparse hemidesmosome. Immunofluorescence study did not show BPAg2 in the basement membrane zone, indicating that mutation in the gene encoding BPAg2 leading to the disease in this family. Conclusions The case is diagnosed as GABEB, a special type of JEB. Although GABEB has its characteristic, clinical manifestations, electron microscopy and immunofluorescence study are important for confirmative diagnosis and classification, and will guide the study of mutation detection.

Key words: Epidermolysis bullosa, junctional