Karagün, Ebru2020-04-302020-04-3020181300-0330https://dx.doi.org/10.5336/dermato.2018-60145https://hdl.handle.net/20.500.12684/313Homozygous familial hypercholesterolemia is a rare autosomal dominant disorder with a rate of 1/1.000.000. The main defect in familial hypercholesterolemia is related to the low-density lipoprotein receptor located in the short arm of chromosome 19. These defects include a reduction in the number of resultant low-density lipoprotein receptors or a total absence, or alternatively, a defective receptor construction.These defects lead to tendon and skin xanthomas, early-onset coronary artery disease and myocardial infarction-related deaths due to excessive accumulation of low-density lipoprotein cholesterol in the plasma. It s the first finding xanthomas are know. Coronary artery disease can be prevented with early diagnosis. Here we present a case of familial homozygous hypercholesterolemia diagnosed by xanthomastia at 3 years of age and the etiopathogenesis, diagnosis and treatment of the disease are reviewed in the light of the literature. Copyright © 2018 by Türkiye Klinikleri.tr10.5336/dermato.2018-60145info:eu-repo/semantics/closedAccessHomozygote; Hypercholesterolemia type 2; XanthomasArticle2812831Q4