Familial homozygous hypercholesterolemia: report of two patients and review of the literature.
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.
Sethuraman
Gomathy
G
Department of Dermatology and Venereology, All India Institute of Medical Sciences, New Delhi, India. kgsethu@yahoo.com
Sugandhan
Selvendran
S
Sharma
Gautam
G
Chandramohan
Kudligi
K
Chandra
Nimai Chand
NC
Dash
Sushruta Shefali
SS
Komal
Aggarwal
A
Sharma
Vinod K
VK
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*
D008078:Cholesterol, LDL; D002784:Cholesterol