【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(plakophilin1)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。更多还原

【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.更多还原