Familial homozygous hypercholesterolemia with arcus cornea and xanthomas: A rare but serious entity

Abstract

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.

Keywords

• cornea
• familial hypercholesterolemia
• homozygous
• hypercholesterolemia
• xanthomatosis