title: Familial homozygous hypercholesterolemia: report of two patients and review of the literature.
abstract: 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.
authors.affiliation: Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India. kgsethu@yahoo.com
authors.forename: Gomathy
authors.initials: G
authors.lastname: Sethuraman
authors.forename: Selvendran
authors.initials: S
authors.lastname: Sugandhan
authors.forename: Gautam
authors.initials: G
authors.lastname: Sharma
authors.forename: Kudligi
authors.initials: K
authors.lastname: Chandramohan
authors.forename: Nimai Chand
authors.initials: NC
authors.lastname: Chandra
authors.forename: Sushruta Shefali
authors.initials: SS
authors.lastname: Dash
authors.forename: Aggarwal
authors.initials: A
authors.lastname: Komal
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Sharma
mesh_terms: D002648:Child; D002784:Cholesterol / Q000097:blood; D008078:Cholesterol, LDL / Q000097:blood; D004550:Elbow; D005260:Female; D005528:Foot; D006225:Hand; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000150:complications* / Q000628:therapy; D007717:Knee; D008297:Male; D013710:Tendons; D014973:Xanthomatosis / Q000235:genetics*
chemical_list: D008078:Cholesterol, LDL; D002784:Cholesterol