A patient with diabetes insipidus and periorbital swellings; Erdheim-Chester disease

Erdheim-Chester disease is a rare multisystem disease in which a progressiv e xanthogranulomatous infiltration of several tissues can be seen. We descr ibe a woman, known to have diabetes insipidus for ten years, with periorbit al, retroperitoneal, mediastinal, axillar and inguinal involvement. On hist ological examination a granulomatous infiltration of fatty tissue and stria ted muscle was seen, consisting of Touton giant cells, histiocytes with foa my cytoplasm and lymphocytes. Immunohistochemical staining with CD-1a and S -100 was negative and on electron microscopy no Langerhans granules were se en. These findings led to the diagnosis of Erdheim-Chester disease. She had a good response on steroids. Because of some similar clinical features of Langerhans cell histiocytosis and Erdheim-Chester disease, a histiocyte dis order seems the most probable cause. (C) 1999 Elsevier Science B.V. All rig hts reserved.