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
Buyukgebiz B, Eroglu Y, Cevik NT, Tunnessen WW. Picture of the Month. Arch Pediatr Adolesc Med. 1995;149(6):699-700. doi:10.1001/archpedi.1995.02170190109020