中华皮肤科杂志 ›› 2004, Vol. 37 ›› Issue (11): 629-631.

• 论著 • 上一篇    下一篇

外胚层发育不良/皮肤脆性综合征我国首例报道

郑瑞, 朱学骏   

  1. 北京大学第一医院皮肤科 100034
  • 收稿日期:2003-11-01 出版日期:2004-11-15 发布日期:2004-11-15

Ectodermal Dysplasia/Skin Fragility Syndrome:The First Case Report in China

ZHENG Rui, ZHU Xue-jun   

  1. Department of Dermatology, Peking University First Hospital, Beijing 100034, China
  • Received:2003-11-01 Online:2004-11-15 Published:2004-11-15

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摘要： 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 1)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。

关键词: 外胚层发育不良症, 综合征, 皮肤脆性, 斑菲素蛋白1

Abstract: Objective To report the first case of ectodermal dysplasia/skin fragility syndrome in China.Methods The clinical data,transmission electron microscopic examination and immunohistochemical analysis of this patient were evaluated.Results The patient was a 3-year-old girl who presented increased skin fragility with trauma-induced,blisters and erosions,combined with short and sparse hair,finger-and toe-nail dystrophy and palmoplantar keratoderma.Transmission electron microscopy showed a loss of keratinocyte-keratinocyte adhesion,widening of intercellular spaces and a reduced number of hypoplastic desmosomes.Immunohistochemical analysis revealed a complete absence of staining for plakophilin 1.Conclusion Ectodermal dysplasia/skin fragility syndrome is a rare autosomal recessive inherited disease characterized by clinical manifestations as well as electron microscopic features and immunohistochemical evidence.

Key words: Ectodermal dysplasia, Syndrome, Skin fragility, Plakophilin 1