These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Familial homozygous hypercholesterolemia: report of two patients and review of the literature.
    Author: Sethuraman G, Sugandhan S, Sharma G, Chandramohan K, Chandra NC, Dash SS, Komal A, Sharma VK.
    Journal: Pediatr Dermatol; 2007; 24(3):230-4. PubMed ID: 17542869.
    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.
    [Abstract] [Full Text] [Related] [New Search]