儿童家族性高胆固醇血症并发结节性黄瘤病1例  

A Case of Familial Hypercholesterolemia Complicated with Nodular Xanthomatosis in Children

作　　者：赵庆平 彭阳 方杰 林伟清 汪静莎 王娟 ZHAO Qingping;PENG Yang;FANG Jie;LIN Weiqing;WANG Jingsha;WANG Juan(Department of Dermatology,the First People's Hospital of Bijie,Bijie 551700,China;Qixingguan District Xiaoba Central Health Center of Bijie,Bijie 551700,China)

机构地区：[1]毕节市第一人民医院皮肤科,贵州毕节551700 [2]毕节市七星关区小坝中心卫生院,贵州毕节551700

出　　处：《皮肤科学通报》2023年第3期374-376,共3页Dermatology Bulletin

摘　　要：患儿男,5岁,全身多部位皮肤黄色结节2年。其母亲、舅舅均患高胆固醇血症,父亲血脂正常。辅助检查:血清总胆固醇、低密度脂蛋白胆固醇均明显升高。组织病理:真皮及筋膜内大量泡沫状细胞呈群或结节状排列在胶原束间,可见Touton多核巨细胞。诊断:Ⅱa型家族性高胆固醇血症性结节性黄瘤病杂合子型。A 5-year-old male patient presented with multiple yellow skin nodules throughout the body for 2 years.His mother and uncle have hypercholesterolemia,father blood fat is normal.Auxiliary examination:serum total cholesterol and low density lipoprotein cholesterol were significantly increased.Histopathology showed that a large number of foam-like cells in dermis and fascia were arranged in clusters or nodules between collagen bundles,and Touton multinucleated giant cells were common.This patient was diagnosed as Heterozygous typeⅡa familial hypercholesterolemic nodular xanthomatosis.

关 键 词：结节性黄瘤病 高胆固醇血症 家族性 杂合子型 

分 类 号：R589.2[医药卫生—内分泌]