June 1995

Picture of the Month

Author Affiliations

From the Department of Pediatrics, Dokuz Eylul University, Izmir, Turkey.

Arch Pediatr Adolesc Med. 1995;149(6):699-700. doi:10.1001/archpedi.1995.02170190109020

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

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