非典型表皮松解性角化过度症1家系报告及基因突变分析  

Atypical Epidermolytic Hyperkeratosis: a Pedigree Report and Gene Mutation Analysis

作　　者：任军[1] 曾丽月[1] 陈美华[1] 刘晓坤[1] REN Jun;ZENG Liyue;CHEN Meihua;LIU Xiaokun(Department of Dermatology,Zhongshan Hospital Xiamen Universtiy,Xiamen 361004,China)

机构地区：[1]厦门大学附属中山医院皮肤科,福建厦门361004

出　　处：《中国皮肤性病学杂志》2018年第11期1255-1258,共4页The Chinese Journal of Dermatovenereology

摘　　要：目的报告一个以严重掌跖角化过度为主要表现的非典型表皮松解性角化过度症(epidermolytic hyperkeratosis,EHK)家系,并检测其基因突变情况。方法收集1个EHK家系的临床资料,取先证者皮损行组织病理检查。提取先证者及其亲属外周血DNA,采用靶向第二代测序技术对与皮肤病相关的373个基因进行高通量测序。结果先证者皮损组织病理符合表皮松解性角化过度症,其携带角蛋白1基因(KRT1) c. 1591delA(p. S53lAfs*83)杂合突变。家系中未受累者未检测到该突变。结论 KRT1基因的c. 1591delA(p. S53lAfs*83)杂合移码突变可能是导致该家系患者临床表型的病因。Objective To report a Chinese pedigree with atypical epidermolytic hyperkeratosis （EHK） featured by severe palmoplantar hyperkeratosis and to detect the underlying gene mutations. Methods Clinical data were collected from a pedigree with EHK. Skin lesion was obtained from the proband and subjected to histological analysis. High-throughput sequencing was performed on the genomic DNA of the proband and his relatives including 373 skin disease-related genes by the means of targeted nextgeneration sequencing panel. Results Histology of lesional skin showed characteristic features of epidermolytic hyperkeratosis. A KRT1 heterozygous frame shift mutation c. 1591delA（p. S531Afs ＊ 83） was identified in the proband,which was not found in unaffected individuals in the family. Conclusion The heterozygous frameshift mutation c. 1591delA（ p. S531Afs ＊ 83 ）of KRT1 is likely responsible for EHK in this pedigree.

关 键 词：表皮松解性角化过度症 角蛋白1基因 基因突变 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]