Xanthoma with ocular and cardiovascular involvement in a boy

ABSTRACT

In this report, a 10 year old boy with both tendinous and tuberous xanthoma is presented. Premature corneal arcus and aortic stensosis were associated findings in this case. Tuberous and tendinous xanthomas are two clinical varieties of one disease, both of which are seen in type 11 hyperlipoproteinemia. Increased serum cholesterol with pathological findings of skin lesions with oculocardiac involvement are all in favour of a homozygous condition. This is a rare disorder, and occurs in one per million of the general population, but a combination of two kinds of clinical skin lesions with cardiac involvement and corneal arcus is very rare. Therapy with cholestyramine 2 grams daily orally was prescribed. After six months of therapy, there was no improvement in his problem: