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

Abstract

A 55-year-old man with the classical mucocutaneous lesions of xanthoma disseminatum has been followed up for a period of 13 years. The special features of this case, which make it unique, are as follows: (1) the availability of histologic data on multiple lesions for more than a ten-year period; (2) the progressive nature of the multiple osseous lesions; (3) the metabolic studies that show no evidence for accumulation of abnormal sterols in a xanthoma, the blood, or intestinal aspirate; (4) the development of hypothyroidism and symptoms or signs, or both, of an intracerebral and an intraspinal lesion; (5) the partial regression of the cutanous symptoms and lesions while receiving clofibrate, in spite of progression of the mucous membrane and osseous lesions, and (6) the failure to develop diabetes insipidus to date.

A Case of Xanthoma Disseminatum with Spontaneous Resolution over 10 Years: Review of the Literature on Long-Term Follow-Up

“…Our patient had vasopressin-sensitive diabetes insipidus and hypogonadotropism, but her prolactin, cortisol, and growth hormone levels were normal. There have also been reports of rare associations of XD with multiple myeloma, Waldenström’s macroglobulinemia, hypothyroidism, and hyperthyroidism [4,11,16,17]. …”

“…Low-fat diet [3,8], surgical excision [3,4,20], electrocoagulation [20], cryotherapy [8], radiation [3,21], glucocorticoids [22,23,24], anti-metabolites [21,24], anti-cancer drugs [4], lipid-lowering agents [4,17,25], or combinations of these therapies have been tried. However, most XD patients do not respond to any form of therapy and their disease either remains stable or becomes progressive.…”

Histiocitose cutânea não-Langerhans como causa de diabetes insípido central

“…Contudo, o xantoma disseminado manifesta-se, freqüentemente, por numerosas pápulas coalescentes em áreas de flexão cutânea (11,12). Dois casos anteriormente descritos na literatura como exemplos da associação do xantoma disseminado ao DIC foram posteriormente questionados, pois, segundo a opinião de alguns autores, poderiam se tratar do xantoma papular, uma vez que não havia o infiltrado inflamatório e o quadro clínico característico do xantoma disseminado (2).…”

The Various Clinical Patterns of Xanthoma disseminatum

“…The typical cutaneous orangeyellow-brownish papulonodules, initially isolated, gradu ally tend to coalesce and merge into plaques, mostly on the main folds, the process lasting from a few months to sev eral years. Lesions may become exuberant especially on the face causing disfiguration [12,23,24] or on the perianal area thus interfering with defecation [6,8], The hard-elastic texture of the initial lesions tends to slowly diminish with time, and the skin may become slack and atrophic, espe cially on the folds and the face.…”

“…Reported associations include multiple myeloma [7|, Waldenstrom's macroglobulinemia [15], monoclonal gammopathy [19], hypothyroidism [8] and hyperthyroidism [16].…”