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Familial Homozygous Hypercholesterolemia: Report of Two Patients and Review of the Literature
Author(s) -
Sethuraman Gomathy,
Sugandhan Selvendran,
Sharma Gautam,
Chandramohan Kudligi,
Chandra Nimai Chand,
Dash Sushruta Shefali,
Komal Aggarwal,
Sharma Vinod K
Publication year - 2007
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2007.00391.x
Subject(s) - medicine , familial hypercholesterolemia , dermatology , pediatrics , cholesterol
Familial homozygous hypercholesterolemia is a rare autosomal dominant, metabolic disorder caused by mutation in the gene, which encodes the synthesis of low‐density lipoprotein receptors and is characterized by increased serum low‐density lipoprotein cholesterol. Multiple types of xanthomas occur, such as tendinous, tuberous, xanthelasma, and sub‐periosteal. Intertriginous xanthomas are rare but if present are pathognomonic of this disorder. We report two children with familial homozygous hypercholesterolemia who had multiple xanthomas including the intertriginous variety.