家族性高胆固醇血症合并腱黄瘤1例并文献复习  

Familial hypercholesterolemia with xanthomatosis tendinum:a case report and literature reviews

作　　者：张立坤 朱圣杰 冯心怡 钱婷婷[1] 徐明圆 庄丽华[1] ZHANG Likun;ZHU Shengjie;FENG Xinyi;QIAN Tingting;XU Mingyuan;ZHUANG Lihua(Department of Dermatology,Taicang Hospital Affiliated to Nanjing University of Chinese Traditional Medicine,Taicang 215400,China;Department of Dermatology,Yueyang Hospital Affiliated to Shanghai University of Chinese Traditional Medicine,Shanghai 200437,China;Department of Pathology,Shanghai Skin Disease Hospital,Shanghai 200443,China)

机构地区：[1]南京中医药大学太仓附属医院皮肤科,江苏太仓215400 [2]上海中医药大学附属岳阳中西医结合医院皮肤科,上海200437 [3]上海市皮肤病医院病理科,上海200443

出　　处：《临床皮肤科杂志》2025年第1期40-42,共3页Journal of Clinical Dermatology

摘　　要：报告1例家族性高胆固醇血症合并腱黄瘤。患者男,46岁。左肘部皮下结节8余年。皮肤科检查:左肘关节外侧近心端一肤色结节,约3.0 cm×2.5 cm,隆起于肤面,周围皮肤可见少许色素沉着。皮损组织病理检查:纤维结缔组织间可见散在分布的组织细胞及泡沫细胞,细胞未见明显异形性,细胞核较小,呈固缩状,并可见Touton巨细胞。实验室检查:总胆固醇(TG)、低密度脂蛋白胆固醇(LDL-C)、载脂蛋白B、脂蛋白a及γ-谷氨酰转移酶水平均升高。诊断:家族性高胆固醇血症合并腱黄瘤。A case of familial hypercholesterolemia complicated with xanthomatosis tendinum is reported.A 46-year-old male presented with subcutaneous nodule on the left elbow for more than eight years.Dermatological examination showed a skin-colored nodule at the lateral proximal end of the left elbow joint,sizing about 3.0 cm×2.5 cm,rising on the skin surface,and a little pigmentation was visible in the surrounding skin.Histopathological examination of the skin lesions revealed histiocytes and foam cells scattered among the fibrous connective tissue.There were no obvious abnormalities in the cells.The nucleus was small and pyknotic,and Touton giant cells could be seen.Laboratory tests showed elevations in the levels of total cholesterol(TG),low-density lipoprotein cholesterol(LDL-C),apolipoprotein B,lipoprotein a andγ-glutamyltransferase.A diagnosis of familial hypercholesterolemia with xanthomatosis tendinum was made.

关 键 词：高胆固醇血症 家族性 腱黄瘤 

分 类 号：R758.4[医药卫生—皮肤病学与性病学]