Extensive tuberous xanthoma

Abstract

Xanthomas are a common presentation of disorders of lipid metabolism. Usually associated with abnormalities of cholesterol metabolism, combined with hyperlipidaemias or hypertriglyceridaemia. Tuberous xanthoma is associated, for example, with familiar dysbetalipoproteinaemia type III, combined with familiar hyperlipidaemia and familiar hypercholesterolaemia as well as in secondary hyperlipidaemias. Lesions vary in size and shape from small papules (0.5cm in diameter) to lobulated tumors (2.5cm in diameter) or more across. Usually they are painless, but the large lesions may be tender on direct pressure. They develop slowly and are seen on the pressure areas, such as on the extensor aspects of the limbs, particularly over knees, elbows and buttocks. Histology of the skin biopsies may show the presence of intracellular sudanophilic material in abnormal quantities, particularly spumcells around capillaries. Our patient is a 62 years old man, born in Rio de Janeiro-Brazil, who has been complaining about tuberous lesions for the last 10 years on elbows, knees and heels. Those lesions are painless, though aggregated, with glabrous surface and central hypochromia, vary in size from 1.0 cm to 3.5cm of diameter. There was a slowly development of the lesions, both in size and number. The patient shows dyslipoproteinaemia and high blood pressure without treatment for almost 8 years. He does not use any medicine normally. He has been smoking for the last 50 years. There is no familiar history of dyslipidaemia or another chronic disease. The latest exams showed total lipids = 2042mg/dl, total cholesterol = 519mg/dl, HDL = 50mg/dl, LDL = 320mg/dl and VLDL = 149mg/dl. The histopathology of one lesion located on his right elbow showed numerous foamcells (xanthomacells), confirming the clinical diagnostic of tuberous xanthoma associated with dysbetalipoproteinaemia type III. The patient was advised to have the largest lesions removed by surgical treatment.