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Indian Pediatr 2009;46: 727

Tuberous Xanthoma

RK Singh and AK Simalti

Indira Gandhi Institute of Child Health, Kabul, Afghanistan.
E-mail: [email protected]

A 7-year old boy presented with rounded masses over his both knees, both elbows and metacarpophalangeal joints of index and mid finger (Fig.1). These masses first appeared over knee 3 year back and then over other joints. These masses were painless, not adherent to underlying structures and gradually increasing in size. There was history of similar masses in the younger sister.


Fig.1 Tuberous xanthoma on the knee and elbows.

A diagnosis of tuberous xanthoma was considered. His serum cholesterol was raised (640 mg/dL) and he was diagnosed to have familial hypercholesterolemia. Differential diagnosis of tuberous xanthoma in this child included juvenile xanthogranuloma which presents at earlier age and erythema elevetum diutinum, which is seen generally in adult patients and is a rare type of leucoclastic vasculitis.

Xanthomas are tumors of lipid containing cells and classified on basis of location and appearance. Tendinous xanthomas involve tendons or facia, commonly on hands, feets, elbow or knees seen in Type II hyperlipoproteinemia.

Planar xanthomas are yellow to tan papular plaques on head, trunk and extremities, associated with type II HLP. Eruptive xanthomas are sudden appearance of small inflammatory red to yellow papules, associated with high serum triglyceride (type IV, III, HLP). Xanthelasmas are plane xanthoma on upper eyelids, mostly with elevated cholesterol (type II HLP).