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Ectodermal Dysplasia/Skin Fragility Syndrome:The First Case Report in China
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- Author:
- No author available
- Journal Title:
- CHINESE JOURNAL OF DERMATOLOGY
- Issue:
- 11
- DOI:
- 10.3760/j.issn:0412-4030.2004.11.002
- Key Word:
- 外胚层发育不良症;综合征;皮肤脆性;斑菲素蛋白1
Abstract： 目的报道我国首例外胚层发育不良/皮肤脆性综合征.方法对先证者的临床资料、组织病理、透射电镜及免疫组化进行分析.结果先证者为3岁女孩,主要表现为皮肤脆性增加,受力部位易出现水疱及糜烂,并伴有头发短、稀,甲营养不良和掌跖角化等外胚层发育不良的表现.透射电镜检查显示细胞间连接缺失,细胞间隙增宽,桥粒数目减少和发育不良,张力丝短粗聚集.免疫组化示患者斑菲素蛋白1(plakophilin I)染色完全缺失.结论外胚层发育不良/皮肤脆性综合征是罕见的常染色体隐性遗传病,临床表现、透射电镜及免疫组化染色所见具有特征性.
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