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Picture of the Month

Picture of the Month Abstract 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 References 1. Hoeg JM. Familial hypercholesterolemia: what the zebra can teach us about the horse . JAMA . 1994;271:543-546.Crossref 2. Goldstein JL, Brown MS. Familial hypercholesterolemia . In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989:1215-1220. 3. Sprecher DL, Schaefer EJ, Kent KM, et al. Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients . Am J Cardiol . 1984;54:20-30.Crossref 4. Stein EA, Black DM. Hyperlipoproteinemias . In: Fernandes J, Tada K, Saudubray JM, eds. Inborn Metabolic Diseases . Heidelberg, Germany: Appl Wemding; 1990:347-380. 5. Wilson JM, Grossman M, Wu CH, Chowdhury NE, Wu GY, Chowdhury JR. Hepatocyte-directed gene transfer in vivo leads to transient improvement of hypercholesterolemia in low density lipoprotein receptor–deficient rabbits . J Biol Chem . 1992;267:963-967. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Pediatrics & Adolescent Medicine American Medical Association

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References (5)

Publisher
American Medical Association
Copyright
Copyright © 1995 American Medical Association. All Rights Reserved.
ISSN
1072-4710
eISSN
1538-3628
DOI
10.1001/archpedi.1995.02170190109020
Publisher site
See Article on Publisher Site

Abstract

Abstract 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 References 1. Hoeg JM. Familial hypercholesterolemia: what the zebra can teach us about the horse . JAMA . 1994;271:543-546.Crossref 2. Goldstein JL, Brown MS. Familial hypercholesterolemia . In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic Basis of Inherited Disease . 6th ed. New York, NY: McGraw-Hill International Book Co; 1989:1215-1220. 3. Sprecher DL, Schaefer EJ, Kent KM, et al. Cardiovascular features of homozygous familial hypercholesterolemia: analysis of 16 patients . Am J Cardiol . 1984;54:20-30.Crossref 4. Stein EA, Black DM. Hyperlipoproteinemias . In: Fernandes J, Tada K, Saudubray JM, eds. Inborn Metabolic Diseases . Heidelberg, Germany: Appl Wemding; 1990:347-380. 5. Wilson JM, Grossman M, Wu CH, Chowdhury NE, Wu GY, Chowdhury JR. Hepatocyte-directed gene transfer in vivo leads to transient improvement of hypercholesterolemia in low density lipoprotein receptor–deficient rabbits . J Biol Chem . 1992;267:963-967.

Journal

Archives of Pediatrics & Adolescent MedicineAmerican Medical Association

Published: Jun 1, 1995

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