| 家族性高胆固醇血症性黄瘤病1例 |
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| 引用本文： | 朱秀芳 刘小军. 家族性高胆固醇血症性黄瘤病1例[J]. 临床皮肤科杂志, 1999, 28(6): 374-375 |
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| 作者姓名： | 朱秀芳 刘小军 |
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| 作者单位： | 浙江金华市中心医院皮肤科!321000(朱秀芳),金华铁路医院皮肤科(刘小军) |
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| 摘 要： | 患者男,２２岁,两肘关节伸侧、右足跟相继出现产、结节状黄色肿块７年,无自学症状觉血胆固醇、β脂蛋白异常增高：心脏多普勒超声提示主动脉瓣增厚伴轻度主动脉返流;眼科检查发现角膜环;手术切除左肘部黄色肿块,组织病理切片报告真皮网状层大量泡沫状组织细胞浸润,并见多核细胞。家族史中患者胞弟７岁开始有同样发病,１５岁时死于心脏病。
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| 关 键 词： | 高胆固醇血症 黄瘤病 家族性 皮肤 脂质代谢 |
A case of familial hypercholesterolemic xanthomatosis |
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| Zhu Xiufang, Liu Xiaojun. A case of familial hypercholesterolemic xanthomatosis[J]. Journal of Clinical Dermatology, 1999, 28(6): 374-375 |
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| Authors: | Zhu Xiufang Liu Xiaojun |
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| Abstract: | A 22 year old male patient had presented with plane, nodular xanthomas on thedorsal part of both elbow joints and the right heel without subjective symptoms for 7 years.Laboratory study showed hypercholesterolemia and masked -lipoproteinemia; ultra-sound ofbeart doppler revealed aortic valve thickened with mild insufficiency, and histological ex-amination found multinuclear giant cells and foam cells in the specimen of xanthoma re-moved from the left elbow joint. Family history revealed that the patient's younger brotherwith the same clinical manifestations hegan at age 7 and died from cardiovascular compli-cations of the disease at age 15. |
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| Keywords: | Xanthomatosis Lipid metabolism Familial hypercholesterolemic xanthomatosis |
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