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。
Familial hypercholesterolemia with xanthomatosis tendinum:a case report and literature reviews
A case of familial hypercholesterolemia complicated with xanthomatosis tendinum is reported.A 46-year-old male present-ed 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 lit-tle 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 and γ-glutamyltransferase.A diagnosis of familial hypercholesterolemia with xanthomatosis tendinum was made.
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