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  • Title: Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity.
    Author: Chamli A, Zaouak A, Frioui R, Fenniche S, Hammami H.
    Journal: Clin Case Rep; 2023 Mar; 11(3):e7024. PubMed ID: 36879675.
    Abstract:
    Familial hypercholesterolemia (FH) is a rare but life-threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen-year-old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of this manifestation especially in the younger age group should draw attention to hypercholesterolemia. A timely diagnosis is fundamental to prevent serious complications and for early treatment.
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