SASH1基因突变引起的遗传性泛发性色素异常症1例  

Hereditary Generalized Hypochromatosis Caused by Mutation of SASH1 Gene:A Case Report

作　　者：宋元涛 荣美香 廉佳[1] 毕田田[1] 李钦峰[1] SONG Yuantao;RONG Meixiang;LIAN Jia;BI Tiantian;LI Qinfeng(Department of Dermatology,Tianjin Children's Hospital,Tianjin 300000,China)

机构地区：[1]天津市儿童医院皮肤科,天津300000

出　　处：《中国皮肤性病学杂志》2022年第9期1083-1085,共3页The Chinese Journal of Dermatovenereology

摘　　要：患者男,9岁,全身散在色素沉着伴色素减退8年。皮损组织病理示:色素沉着区可见基底层色素增加,色素减退区可见基底层色素轻度减少,真皮浅层血管可见少许的淋巴细胞浸润。诊断:遗传性泛发性色素异常症。A 9-year-old male patient presented with hyperpigmentation and hypopigmentation scattered all over his body for 8 years.Skin histopathology revealed an increase in basal layer pigment in the pigmented area,a slight decrease in basal layer pigment in the hypopigmented area,and a few lymphocytes in the superficial dermis.The diagnosis of dyschromatosis universalis hereditaria was made.

关 键 词：SASH1 遗传性泛发性色素异常症 

分 类 号：R758.54[医药卫生—皮肤病学与性病学]