Spectacular Presentation of Tuberous Xanthomas in a Case of Familial Hypercholesterolemia Type IIa

Xanthomas are localized lipid deposits within organs that may manifest as papules, plaques, or nodules in skin. The subtype of xanthoma provides a clue to the underlying lipid abnormality. Accurate diagnosis of xanthomas is important because it can lead to the identification and treatment of underlying disease. Xanthomas associated with familial hypercholesterolemia are an exception. In patients with this disorder they often begin to develop prior to the age of 10 years. We report a case of 16-year-old child suffering from a spectacular form related to homozygous familial hypercholesterolemia.