Xanthoma disseminatum. Clinical, metabolic, pathologic, and radiologic aspects

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Abstract
A 55 yr old man with the classical mucocutaneous lesions of xanthoma disseminatum was followed up for a period of 13 yr. The special features of this case, which make it unique, are as follows: the availability of histologic data on multiple lesions for more than a 10 yr period; the progressive nature of the multiple osseous lesions; the metabolic studies that show no evidence for accumulation of abnormal sterols in a xanthoma, the blood, or intestinal aspirate; the development of hypothyroidism and symptoms or signs, or both, of an intracerebral and an intraspinal lesion; the partial regression of the cutaneous symptoms and lesions while receiving clofibrate, in spite of progression of the mucous membrane and osseous lesions; and the failure to develop diabetes insipidus to date.

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