Rothmund-Thomson综合征  

Rothmund-Thomson syndrome:a case report

作　　者：李倩 张高磊[1] 高莹[1] 刘晓雁[1] LI Qian;ZHANG Gao-lei;GAO Ying;LIU Xiao-yan(Department of Dermatology,Capital Institute of Pediatric,Beijing 100020,China)

机构地区：[1]首都儿科研究所附属儿童医院皮肤科,北京100020

出　　处：《临床皮肤科杂志》2022年第1期8-10,共3页Journal of Clinical Dermatology

摘　　要：报告1例Rothmund-Thomson综合征。患儿男,3岁。先天性皮肤异色及光敏2年余,伴有语言、运动发育迟缓。皮肤科检查:全身皮肤粗糙、干燥,面部、四肢远端及臀部对称性的网状褐色斑,伴有色素减退、毛细血管扩张及萎缩。组织病理示表皮萎缩,界面改变,真皮浅层苔藓样炎性细胞浸润,散在噬色素细胞。基因检测:RecQL4复合杂合突变:c.727G>A,IVS8-1C>T。诊断:Rothmund-Thomson综合征。A case of Rothmund-Thomson syndrome is reported. A 3-year-old boy presented with poikiloderma, photosensitivity and developmental retardation for more than 2 years. Physical examination showed generalized dry skin. There are brown-pigmented patches in a symmetric and reticular distribution, associated with hypopigmention, telangiectasias and atrophy, on the face and buttocks. Histopathological examination showed atrophy of the epidermis with interface changes and a lichnoid inflammation mixed with sporadic melanophages in the superficial dermis. The mutation of gene RecQL4, c.727 G>A, was detected. The diagnosis of Rothmund-Thomson syndrome was made.

关 键 词：ROTHMUND-THOMSON综合征 皮肤异色 RecQL4基因 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]