先天性厚甲症临床表型及分子遗传研究进展  

Progress in Clinical Phenotype and Molecular Genetics of Congenital Pachyonychia

作　　者：刘萌 肖生祥[1] LIU Meng;XIAO Shengxiang(Department of Dermatology,the Second Affiliated Hospital of XVan Jiaotong University,Xi an 710004,China)

机构地区：[1]西安交通大学第二附属医院皮肤病院,陕西西安710004

出　　处：《皮肤科学通报》2020年第1期10-15,共6页Dermatology Bulletin

摘　　要：先天性厚甲症(pachyonychia congenita,PC)是一种罕见的常染色体显性遗传性皮肤病,由5种编码角蛋白的基因KRT6A,KRT6B,KRT6C,KRT16和KRT17中的任何一种基因突变引起。该病的主要临床表现为甲增厚及营养不良、疼痛性掌跖角化、口腔黏膜白斑和多发性表皮囊肿等。依据临床表现可将其分为PC-1和PC-2两种亚型,随着新病例的发现及基因检测技术的发展,提出了依据突变基因命名的新的分类方法。本文综述了先天性厚甲症表型、分子遗传特点及治疗研究进展。Pachyonychia congenita is a rare autosomal dominant keratinizing disorders caused by mutations in one of the five keratin genes KRT6A,KRT6B,KRT6C,KRT16 and KRT17.The main clinical manifestations of the disease are painful palmar keratosis,blisters or ulcers,hypertrophic nail dystrophy,oral leukokeratosis and multiple epidermal cysts.According to the clinical manifestations,it can be divided into two subtypes,PC-1 and PC-2.With the discovery of new cases and the development of gene detection technology,a new classification method based on the mutant genes has been proposed.This article reviews the phenotype,molecular genetics and treatment of pachyonychia congenita to provide a comprehensive understanding of the clinical manifestations,genetic diagnosis and treatment of the disease.

关 键 词：先天性厚甲症 临床表型 分子遗传特点 治疗进展 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]