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家族性杂合子高胆固醇血症的皮肤表现

Skin manifestations in familial heterozygous hypercholesterolemia.

作者信息

Pietroleonardo Lucia, Ruzicka Thomas

机构信息

Department of Dermatology, Ludwig Maximilian University of Munich, Klinik und Poliklinik fur Dermatologie und Allergologie, Frauenlobstrasse 9-11, 80337 Munich. Lucia.

出版信息

Acta Dermatovenerol Alp Pannonica Adriat. 2009 Dec;18(4):183-7.

PMID:20043058
Abstract

Familial hypercholesterolemia, a form of primary hyperlipoproteinemia, is an autosomal dominant disorder characterized by an increase in serum LDL cholesterol concentrations. Multiple types of xanthomas occur, such as tendinous, tuberous, subperiosteal, and xanthelasma. Intertriginous xanthomas are rare, but if present are pathognomonic in this disorder. We report a patient with multiple xanthomas including the very rare intertriginous variety.

摘要

家族性高胆固醇血症是原发性高脂蛋白血症的一种形式,是一种常染色体显性疾病,其特征为血清低密度脂蛋白胆固醇浓度升高。会出现多种类型的黄瘤,如腱黄瘤、结节性黄瘤、骨膜下黄瘤和睑黄瘤。屈侧黄瘤罕见,但如果出现则为此病的特征性表现。我们报告了一名患有多种黄瘤包括极为罕见的屈侧黄瘤类型的患者。

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