结节性硬化症多系统损害1例  

A Case of Tuberous Sclerosis with Multisystem Damage

作　　者：寇晓丽[1] 樊传建 王伟[1] 董萍云[1] 

机构地区：[1]河北医科大学第二医院皮肤科,河北石家庄050000

出　　处：《中国皮肤性病学杂志》2013年第12期1282-1283,1313,共3页The Chinese Journal of Dermatovenereology

摘　　要：患儿女,14岁。从1岁起,面部出现粟粒大小红色丘疹,躯干先后出现条叶状形白斑,鲨鱼皮样斑。伴癫痫,智力低下。头颅CT示:脑内多发钙化灶;双侧肾脏CT示:双肾错构瘤。面部皮损组织病理示:真皮乳头层内血管增多扩张,部分毛囊、皮脂腺周围见粗大胶原束。诊断:结节性硬化症。A 14-year-old girl presented with millet size red papules on face, appeared leaf shape white spots and shark- skin plaque trunk successively from the age of one with a history of epilepsy mental deficiency. The head CT showed：multiple calcifications in the brain. Bilateral renal CT showed：double renal hamartomas. Histological examinations of the face lesions showed：the vessels increased and expanded with in the papilla layer of der- mis. Large collage fibers around follicle and sebaceous could be seen. The diagnosis of tuberous sclerosis was made.

关 键 词：结节性硬化症 遗传 癫痫 肾脏错构瘤 

分 类 号：R758.5[医药卫生—皮肤病学与性病学]