BETA-SITOSTEROLEMIA WITH GENERALIZED ERUPTIVE XANTHOMATOSIS

The clinical features of the first case of a patient with sitosterolem ia and generalized eruptive xanthomatosis are described. A six-year-ol d girl with generalized eruption was referred to the lipid clinic beca use of the high plasma cholesterol levels determined by the enzymatic method. Neither clinical signs nor results of laboratory examinations appeared to be abnormal, except for the eruption and the increase in t he plasma cholesterol concentration. A family survey revealed high pla sma cholesterol concentrations in the mother and one of two other sibl ings. Histological examination showed the eruption to be a xanthoma. P lasma sterol analysis by high-performance liquid chromatography reveal ed a noticeable increase in plasma plant sterol as well as cholestanol concentrations in the proband and the hypercholesterolemic sibling. T he other family members had slightly high plasma sterol concentrations . This is the first case of a sitosterolemic patient with eruptive xan thomatosis. The case indicates that the clinical features of the xanth oma in sitosterolemia are not only tuberous or tendon but also eruptiv e, and also suggests that sitosterolemia should be considered in the d ifferential diagnosis of hypercholesterolemia in almost every case wit h tuberous or eruptive xanthoma. The diagnosis is clinically important , since the disease can be treated successfully by diet therapy and bi le acid binding resins.