摘要
患儿男,7月。面部红斑伴毛细血管扩张5月。皮肤科查体:面部弥漫红斑伴散在毛细血管扩张,双侧臀部及阴囊网状皮肤异色改变。基因测序提示患儿存在RECQL4突变。结合病史以及基因测序结果诊断:Rothmund-Thomson综合征(先天性皮肤异色病)。
A 7-month-old boy presented facial erythema and telangiectasia for five months.Skin examination showed that the boy had facial diffuse erythema and scattered telangiectasia,while poikiloderma revealed on his buttock and scrotum.Gene sequencing test showed there was a RECQL4 gene mutation.The final diagnosis was Rothmund-Thomson syndrome based on medical history and gene sequencing results.
作者
吕艳思
王琳琳
张佳威
黄靖凯
温字平
于娜
张晓东
赵利梅
洪芳
王俐
LV Yansi;WANG Linlin;ZHANG Jiawei;HUANG Jingkai;WEN Ziping;YU Na;ZHANG Xiaodong;ZHAO Limei;HONG Fang;WANG Li(Department of Dermatology,Shenzhen University General Hospital,Shenzhen 518000,China)
出处
《皮肤科学通报》
2020年第1期86-88,共3页
Dermatology Bulletin
