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目的 收集胫前营养不良型大疱性表皮松解症一家系并进行文献综述,总结该病临床特点.方法 报告胫前营养不良型大疱性表皮松解症一家系,并总结了国内外病例共30例.结果 其中男11例,女19例,平均年龄(36.4±18.3)岁,平均发病年龄(18.1±15.2)岁,53.33％患者有家族史,76.67％患者伴有指趾甲营养不良及不同程度甲改变,辅助检查确诊为表皮下水疱,对症处理后可不同程度缓解,皮肤移植可达到理想治疗效果.结论 胫前营养不良型大疱性表皮松解症男女发病相当,多于青年期发病,多数合并有指趾甲损害,组织病理为表皮下水疱,基因治疗或皮内异体成纤维细胞或胶原蛋白重构是有效的前景治疗方法.“,”Objective A pretibial dystrophic epidermolysis bullosa family was reported and to identify the clinic features of pretibial dystrophic epidermolysis bullosa patients in literatures.Methods We reported a family with pretibial dystrophic epidermolysis bullosa,and selected 30 other cases which reported in literatures,then accomplish the meta-analysis among these cases.Results There were 11 males and 19 females among 30 patients at an average age (36.4 ± 18.3) years old and the mean age of onset was (18.1 ± 15.2) years old.There were 53.33％ patients had family history.And 76.67％ patients with nail dystrophy and various degree of damage.They were confirmed the diagnosis of subepidermal blister by laboratory tests.Symptomatic treatment may be helpful.Skin transplantation was a perspective method.Condusions There are no significant differences between males and females in incidence rate,with most onsets in adolescence and chronic process.The majority of patients have toenail damage.Histopathological examination shows subepidermal blister.Gene therapy and fibroblast and recombinant protein therapies are the most promising methods to the treatment.