Erdheim-Chester disease: case report with multisystemic manifestations including testes, thyroid, and lymph nodes, and a review of literature
- 1Institute of Pathology, University of Essen, 45122 Essen, Germany
- 2Department of Internal Medicine, A. Ö. Krankenhaus Zell am See, 5700 Zell am See, Austria
- 3Gerhard-Domagk-Institute of Pathology, University of Münster, 48149 Münster, Germany
- 4Department of Radiation Oncology, University Hospital Hamburg-Eppendorf, 20246 Hamburg, Germany
- Correspondence to: Dr S-Y Sheu Institut für Pathologie, Universitätsklinikum Essen, Hufelandstr. 55, 45122 Essen, Germany; sein-yi.sheumedizin.uni-essen.de
- Accepted 10 May 2004
Abstract
Erdheim-Chester disease is a rare non-Langerhans’ cell histiocytosis with characteristic radiological and histological features. This entity is defined by a mononuclear infiltrate consisting of lipid laden, foamy histiocytes that stain positively for CD68. About half of those affected have extraskeletal manifestations, including involvement of the hypothalamus–pituitary axis, lung, heart, retroperitoneum, skin, liver, kidneys, spleen, and orbit. This report describes the case of a 50 year old white man who presented with hypogonadism and diabetes insipidus. At necropsy, extensive organ involvement was found, including the testes, thyroid, and lymph nodes. This is the first report of thyroid and lymph node infiltration in this disease. Because of the endocrinological symptoms, neurosarcoidosis and hypophysitis are important diseases in the differential diagnosis. This report also includes a review of the literature concerning rare organ manifestations and patients presenting primarily with similar symptoms.
