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Generalized Atrophic Benign Epidermolysis Bullosa:The First Case Report in China
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 4
- DOI:
- 10.3760/j.issn:0412-4030.2001.04.001
- Key Word:
- 表皮松解;大疱性结合性
Abstract： 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.
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