先天性厚甲症家系临床和遗传特点分析  

Clinical manifestation and heredity feature in pachyonychia congenita

作　　者：杨建强[1] 

机构地区：[1]湖州师范学院医学院,浙江湖州313000

出　　处：《中国优生与遗传杂志》2010年第12期115-117,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的了解先天性厚甲症的临床表型和遗传学特点。方法检索近20年来文献发表的13个先天性厚甲症家系,分析患者的临床表型及家系的遗传特点。结果 (1)先天性厚甲症符合常染色体显性遗传模式;(2)先天性厚甲症的临床表型特征为指(趾)甲过度角化增厚,甲营养不良并常伴外胚叶缺陷;发病时间以出生后一岁以内居多。不同家系中患者甚至同一家系中不同患者的表型可存在差异;(3)患者可伴发其他疾病;(4)先天性厚甲症1型、2型可具有不同的遗传基础。结论先天性厚甲症临床表型以指(趾)甲过度角化增厚,甲营养不良并常伴外胚叶缺陷为特征,但不同患者表型可存在差异;致病基因的检测有助于准确分型。Objective：To characterize the clinical and heredity features of pachyonychia congenita cases from Chinese families.Methods： The clinical and genetic data from 12 families collected and analyzed from the literatures reported in Chinese since 1988.Results：（1）The inheritance pattern of pachyonychia congenita was autosomal dominant.（2）The clinical features included fingernail and toenail thickening,hypertrophic nail dystrophy and often associated with ectodermal dysplasia.The onset of the disease often started within the first year of life.The phenotype in the same family differed.（3）Many patients presented with other coincident dermatoses or features.（4） Two subtype′s cases based on difference genetic background.Conclusion： Pachyonychia congenita generally shows an autosomal dominant pattern of inheritance with high penetrance,and it is a rare disease in Chinese based on the published literatures.The typical pachyonychia congenita is characterized by fingernail and toenail thickening,hypertrophic nail dystrophy and often associated with ectodermal dysplasia,and there is difference in phenotype among the individuals.Detection of the pathogenic genes contributed to sound diagnosis of pachyonychia congenita.

关 键 词：先天性厚甲症 常染色体显性遗传 角蛋白 

分 类 号：R758.7[医药卫生—皮肤病学与性病学]