Xanthogranulomatosis in an adult: lipid analysis of xanthomas and plasma

Xanthomatosis in the absence of hyperlipidemia is unusual but has been associated with compositional abnormalities of lipoprotein particles. An adult who developed juvenile xanthogranulomatosis in association with oral contraceptive ingestion is reported. Plasma lipids and lipoprotein electrophoresis were normal, as in a few other patients reported with this disorder. However, analysis of cutaneous xanthoma and plasma by thin-layer and gas-liquid chromatography revealed that cholesterol was the principal lipid in xanthoma and that there were no unusual sterols in plasma or tissue. Possible mechanisms of xanthoma formation are discussed. Thus juvenile xanthogranulomatosis should be considered in adults with normolipemic xanthomatosis.This article reports the case of a 23-year-old woman with juvenile xanthogranulomatosis, an unusual normolipemic xanthomatosis most often seen in young children. Chromatographic techniques were used to analyze this patient's plasma and xanthomatous tissue for beta-sitosterol, cholestanol, and other sterols that might be present in unusual quantities. The woman had normal fasting levels of plasma cholesterol and triglyceride. The lipoprotein electrophoresis was also normal, and levels of unusual sterols, such as cholestanol and beta-sitosterol, were not increased in plasma or in the xanthomas. Analysis of xanthoma tissue revealed that the predominant lipid was cholesterol. The only medication this patient reported using was a combination oral contraceptive (OC) containing 1 mg of norethindrone and 0.035 mg of ethinyl estradiol. OC use was initiated 1 month before the onset of cutaneous symptoms. The patient refused to discontinue OC use. Since it was not possible to withdraw the drug and observe the patient for regression of the lesions, a causal association of juvenile xanthogranulomatosis with OC use can not be asserted. This case suggests that juvenile xanthogranulomatosis should be considered in adults with normolipemic xanthomatosis. Possible mechanisms for cutaneous xanthoma formation include a defect in local lipid synthesis, an abnormality in local tissue uptake and degradation of lipoproteins that may or may not be coupled with an abnormality in circulating lipoproteins, or local invasion of histiocytes that then accumulate large amounts of cholesterol because of an intrinsic cellular abnormality.