THE CUTANEOUS lesions pictured in Figure 1 through Figure 3 began to appear in the intergluteal cleft area when this child was 2 years of age.
Denouement and Discussion
Homozygous Familial Hypercholesterolemia
Homozygous familial hypercholesterolemia is a rare disorder of lipoprotein metabolism occurring in approximately one child in 1 million. It is a monogenic disorder at the low-density lipoprotein (LDL) receptor gene locus, but the phenotypic expression is variable because of at least 20 allelic mutations in the receptor gene that impair the receptor-mediated uptake of LDL from the circulation.1 Low-density lipoprotein receptor formation may be disrupted by mutations in four areas: synthesis, transport, binding, and clustering.2 Lipoprotein particles transport lipids, vitamins, and other hydrophobic substances in the aqueous