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.