儿童高脂蛋白血症Ⅱb型

A case of child with hyperlipoproteinemia Ⅱb

报告1例儿童高脂蛋白血症Ⅱb。患儿女,10岁。双肘部及臀部出现丘疹10年。皮肤科检查:双肘部一黄豆大淡黄色丘疹,质韧;臀部中央骶尾处2粒蚕豆大淡红色丘疹,二者融合,有蒂,表面光滑。实验室检查示胆固醇、低密度脂蛋白及载脂蛋白B表达水平均高于正常值。皮损组织病理检查:表皮变薄,真皮内较多泡沫状组织细胞浸润,呈结节状或弥漫分布,血管周围稀疏淋巴浸润。诊断:高脂蛋白血症Ⅱb型。

A case of child with hyperlipoproteinemia Ⅱ b is reported. A 10-year-old girl had a 10-year history of papules on both the elbows and buttocks. Dermatological examination showed a firm, soybean-sized yellow papule on each elbows, and two broad bean-sized, pedicle lesions with smooth surface on the sacroeoecygeal area. Laboratory tests showed higher levels of cholesterol, low-density lipoprotein, and apolipoprotein B. Histopathological examination of skin lesions showed that thin epidermis, diffuse and focal infiltration of foamy histioeytes in the dermis, and perivascular infiltration of lymphoeytes. The diagnosis of hyperlipoproteinemia Ⅱb was made.