Tuberous xanthomas in sitosterolemia

Sitosterolemia is an autosomal recessive lipid disorder in which plasma pla nt sterol levels are extremely elevated and cholesterol levels are often el evated but may be normal. Clinically sitosterolemia is characterized by xan thomas, premature vascular disease, and arthritis. Adolescent boys and girl s with sitosterolemia are susceptible to fatal cardiac events. Dermatologis ts may have a vital role in the diagnosis of this rare but serious conditio n because early detection and treatment are important in preventing the ass ociated atherosclerotic heart disease. We present a 7-year-old girl with si tosterolemia and tuberous xanthomas.