Alam M, Garzon M C, Salen G, Starc T J
Departments of Dermatology and Pediatrics, College of Physicians and Surgeons, Columbia University, New York, New York, USA.
Pediatr Dermatol. 2000 Nov-Dec;17(6):447-9. doi: 10.1046/j.1525-1470.2000.01817.x.
Sitosterolemia is an autosomal recessive lipid disorder in which plasma plant sterol levels are extremely elevated and cholesterol levels are often elevated but may be normal. Clinically sitosterolemia is characterized by xanthomas, premature vascular disease, and arthritis. Adolescent boys and girls with sitosterolemia are susceptible to fatal cardiac events. Dermatologists may have a vital role in the diagnosis of this rare but serious condition because early detection and treatment are important in preventing the associated atherosclerotic heart disease. We present a 7-year-old girl with sitosterolemia and tuberous xanthomas.
谷甾醇血症是一种常染色体隐性脂质紊乱疾病，其血浆植物甾醇水平极度升高，胆固醇水平常升高，但也可能正常。临床上，谷甾醇血症的特征为黄瘤、早发性血管疾病和关节炎。患有谷甾醇血症的青春期男孩和女孩易发生致命性心脏事件。皮肤科医生在这种罕见但严重疾病的诊断中可能起着至关重要的作用，因为早期检测和治疗对于预防相关的动脉粥样硬化性心脏病很重要。我们报告一例患有谷甾醇血症和结节性黄瘤的7岁女孩。
