摘要患者女,31岁,全身关节伸侧斑块20年,随年龄增大而逐渐增大.皮肤科检查:患者双侧肘、膝、踝等关节伸侧皮肤对称分布大小不一的橙黄色斑块,关节粗大.皮损组织病理检查:真皮浅层血管周围少量淋巴细胞及组织细胞浸润,真皮浅中层大量泡沫细胞浸润,可见多核巨细胞.实验室检查:总胆固醇13.93 mmol/L；低密度脂蛋白9.05 mmol/L.双源CT示:多数冠状动脉不同程度狭窄.X线检查:左足跖趾关节局限性骨皮质缺损.患者父母亦存在血脂异常升高及冠状动脉病变.家族中大伯、二伯及叔叔、胞兄血脂均有不同程度异常,冠状动脉均有不同程度狭窄和斑块形成.其亲属中未见黄瘤.诊断为家族性高胆固醇血症伴结节性黄瘤病.

abstractsA 31-year-old female patient presented with plaques on the extensor aspect of all of the joints in the body for nearly 20 years,which had gradually enlarged over time.Skin examination showed irregularly sized,orange-colored plaques symmetrically distributed on the extensor aspect of bilateral elbows,knees,and ankles.The joints of her hands and feet were enlarged.Histopathological examination of skin lesions revealed a perivascular infiltration of a small number of lymphocytes and histiocytes in superficial dermis,as well as a massive infiltration of foam cells in superficial and mid dermis with multinucleated giant cells occasionally seen.As laboratory examination showed,the serum levels of total cholesterol and low-density lipoprotein were 13.93 mmol/L and 9.05 mmol/L respectively.Dual source CT showed different degrees of stenosis of multiple coronary arteries.Radiography demonstrated localized cortical bone erosions in the left metatarsophalangeal joints.Family survey revealed that the patient's parents,uncles and elder brother all suffered from dyslipidemia and coronary artery diseases,such as coronary stenosis and plaque formation.However,none of her relatives suffered from xanthomatosis.The patient was diagnosed as familial hypercholesterolemia with nodular xanthoma.