a型家族性高胆固醇血症性黄瘤病1例

患者男，18岁，眼睑、四肢斑块、结节14年。母亲、弟弟及表姐血脂均升高，其弟弟及表姐合并有睑黄瘤；实验室检查示：血浆总胆固醇、低密度脂蛋白明显升高。组织病理检查示：真皮层见大量泡沫细胞聚集。诊断：Ⅱa型家族性高胆固醇血症性黄瘤病。...

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Published in中国皮肤性病学杂志 Vol. 31; no. 2; pp. 191 - 193
Main Author 黄银浩 陈永艳 袁伟 边可 陈华 徐小容 龙航
Format Journal Article
LanguageChinese
Published 2017
Subjects
家族性
高胆固醇血症
黄瘤病
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Summary:患者男，18岁，眼睑、四肢斑块、结节14年。母亲、弟弟及表姐血脂均升高，其弟弟及表姐合并有睑黄瘤；实验室检查示：血浆总胆固醇、低密度脂蛋白明显升高。组织病理检查示：真皮层见大量泡沫细胞聚集。诊断：Ⅱa型家族性高胆固醇血症性黄瘤病。
Bibliography:An 18-year-old male patient presented with papules, plaques, nodules in his eyelid and limbs for fourteen years. His mother, younger brother and cousin were diagnosed as hyperlipidemia, his younger brother and cousin also had the xanthelasma palpebrarum. The plasma concentration of cholesterol and low density lipoprotein were significantly elevated. Histopathological examination demonstrated extensive foam ceXls aggregation in dermis. This patient was diagnosed as type Ⅱa familial hypercholesterolemic xanthomatosis.
Xanthomatosis ; Hypercholesterolemia
HUANG Yin-hao1 , CHEN Yong-yan1 , YUAN Wei1 , BIAN Ke1 , CHEN Hua1 ,XU Xiao-rong1 ,LONG Hang2 （ 1. Department of Dermatology,Affiliated Hospital of Zunyi Medical College, Zunyi 563000, China ;2. Department of Plastic and Hand Surgery, the First People＇ s Hospital of Bijie City, Bijie 551700, China）
61-1197/R
ISSN:1001-7089