类脂蛋白沉积症ECM1基因突变1例  

Lipoid Proteinosis Caused by ECM1 Gene Mutations:A Case Report

作　　者：张博文 于承仟 郑松[1] 陈洪铎[1] 徐学刚[1] ZHANG Bowen;YU Chengqian;ZHENG Song;CHEN Hongduo;XU Xuegang(Department of Dermatology,the First Hospital of China Medical University,NHC Key Laboratory of Immunodermatology(China Medical University),Key Laboratory of Immunodermatology(China Medical University),Ministry of Education,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院皮肤科,国家卫生健康委员会免疫皮肤病学重点实验室(中国医科大学),免疫皮肤病学教育部重点实验室(中国医科大学),辽宁沈阳110001

出　　处：《中国皮肤性病学杂志》2023年第5期589-591,共3页The Chinese Journal of Dermatovenereology

基　　金：中国国家重点研究开发计划(2016YFC0901504)。

摘　　要：患者男,14岁,半年前双眼睑出现少许肤色丘疹,随后逐渐扩展至颈部、躯干。双眼睑可见特征性串珠样半透明丘疹。皮损组织病理示:真皮上部及毛囊周围可见均一红染物质沉积,PAS染色阳性。外周血DNA二代测序示,患者ECM1基因存在两个杂合突变位点:c.629T>C(p.Leu210Pro)与c.1441C>T(p.Arg481*)。诊断:类脂蛋白沉积症。A 14-year-old male developed skin-colored papules on the eyelid margins six months ago,which spread to neck,trunk and neck gradually.Beaded and translucent papules lining the eyelids is characteristic.Histopathological examination of the skin on his eyelid showed deposition of a homogeneous red stained material surrounding the superficial dermis and the folliculosebaceous units.The material was positive for PAS.Next-genenration sequencing of peripheral blood genomic DNA revealed 2 heterozygous mutations sited in the ECM1 gene,c.629T>C(p.Leu210Pro)and c.1441C>T(p.Arg481*).Lipoid proteinosis was diagnosed.

关 键 词：类脂蛋白沉积症 ECM1基因 基因突变 

分 类 号：R758[医药卫生—皮肤病学与性病学]