Normolipemic tendon and tuberous xanthomas

Abstract

Tendon and skin xanthomas have been found in association with familial hypercholesterolemia, broad beta disease, beta sitosterolemia, and cerebrotendinous xanthomatosis. We are reporting a patient with tendon and tuberous xanthomas accompanied by normal plasma lipids. In addition, the plasma and xanthoma concentration of cholestanol was normal, while beta sitosterol was absent. These data rule out the disorders listed and suggest that this patient's disorder may represent a new normolipemic xanthomatosis.