TUBEROUS XANTHOMA :A RARE PRESENTATION OF FAMILIAL HYPERCHOLESTEROLEMIA

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by elevated plasma levels of low-density lipoprotein-cholesterol (LDL-C).FH often leads to accumulation of holesterol in the skin, where xanthomas can occur. We report a case of FH in an 11 year old female child which is alerted by multiple nodular lesions over the buttock, knee and elbow. Lipid profile showed elevated serum levels of LDL-C in the child and her mother. Biopsy taken from the lesion showed focal aggregates of foamy macrophages with a conclusion of Tuberous Xanthoma.