先天性脂质代谢异常的皮肤表现可以是诊断这类疾病的主要线索。大多数患者皮肤表现是非特异性的,如黄斑瘤、黄瘤、血管角化瘤,但通过这些皮肤表现可以帮助人们提高对一组代谢性疾病的认识。本文重点讨论先天性脂质代谢异常及其特殊的皮肤表现。脂质代谢性疾病主要是由于全身或局部脂质的代谢和储存发生障碍造成的。在这类疾病中,已经认识其皮肤病理学的有:家族性高脂蛋白血症、脑腱黄瘤病、谷甾醇血症和溶酶体脂质储存性疾病。 Skin manifestations of congenital lipid metabolism abnormalities can be the main clue to diagnose such diseases. Most patients have nonspecific skin manifestations such as xanthoma, xanthoma and angiocarcinoma, but these skin manifestations can help people to improve their understanding of a group of metabolic diseases. This article focuses on congenital lipid metabolism and its unusual skin manifestations. Lipid metabolic diseases are mainly caused by the breakdown of systemic and local lipid metabolism and storage. Among such diseases, there have been recognized their pathological skin: familial hyperlipoproteinemia, brain tendon xanthomas, sitosterol and lysosomal lipid storage disease.