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结节性黄色瘤病是罕见的脂类代谢障碍性疾病,我院于1994年11月收治1例。患者女性,19岁,出生后不久即发现四肢关节伸侧有多处成群的粟状皮肤结节,对称性生长,随生长发育逐渐增大并融合成片状,无不适感,关节活动自如。另患者有先天性高度近视,劳动后心慌气短及月经不调史。喜食动物脂肪及蛋黄类食品。父母系近亲结婚,否认有家族史。检查:双侧腕、肘、臀、踝等处伸侧上褐色皮肤结节,直径5～30cm,凸起于皮肤。坚实而有弹性,无触压痛,无破溃。颈部及凹
Nodular xanthomatosis is a rare lipid metabolism disorder, our hospital was admitted in November 1994 in 1 case. Female patients, 19 years old, shortly after birth that appeared on the limbs extensor multiple groups of milky skin nodules, symmetrical growth, with the growth and development gradually increased and integrated into a sheet, no discomfort, joint activity freely . The other patients have a high degree of congenital myopia, palpitation after labor shortness of breath and history of irregular menstruation. Eat animal fats and egg yolks. The parents were married relatives, denied having a family history. Check: Bilateral wrists, elbows, buttocks, ankles, etc. Extension of the brown skin nodules, diameter 5 ~ 30cm, raised in the skin. Solid and flexible, no tenderness, no ulceration. Neck and concave