泛发性萎缩性良性大疱性表皮松解症我国首例报道

摘要/Abstract

摘要： 目的报道我国首例泛发性萎缩性良性大疱性表皮松解症家系。方法对该家系先证者的临床资料、组织病理、透射电镜、间接免疫荧光检查进行分析。结果该患者除了先天性大疱性表皮松解症的症状外,特征性表现是萎缩性秃发和牙齿发育不良。透射电镜检查裂隙位于基底膜透明板,同时伴半桥粒数目减少和发育不良。间接免疫荧光检查发现患者针对大疱性类天疱疮抗原2的荧光消失,说明本例发病与编码大疱性类天疱疮抗原2的基因COL17A1的缺陷有关。结论此例为泛发性萎缩性良性大疱性表皮松解症,是交界性大疱性表皮松解症的一种特殊亚型。泛发性萎缩性良性大疱性表皮松解症有一定的临床特点,透射电镜和间接免疫荧光检查对于正确诊断和分型十分重要,并对进一步基因突变位点研究有指导作用。

关键词: 表皮松解, 大疱性结合性

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

吴艳, 朱学骏. 泛发性萎缩性良性大疱性表皮松解症我国首例报道[J]. 中华皮肤科杂志, 2001, 34(4): 253-256.

WU Yan, ZHU Xuejun. Generalized Atrophic Benign Epidermolysis Bullosa:The First Case Report in China[J]. Chinese Journal of Dermatology, 2001, 34(4): 253-256.

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