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

Neth J Med. 1999 Aug;55(2):76-9. doi: 10.1016/s0300-2977(99)00044-3.

Abstract

Erdheim-Chester disease is a rare multisystem disease in which a progressive xanthogranulomatous infiltration of several tissues can be seen. We describe a woman, known to have diabetes insipidus for ten years, with periorbital, retroperitoneal, mediastinal, axillar and inguinal involvement. On histological examination a granulomatous infiltration of fatty tissue and striated muscle was seen, consisting of Touton giant cells, histiocytes with foamy cytoplasm and lymphocytes. Immunohistochemical staining with CD-1a and S-100 was negative and on electron microscopy no Langerhans granules were seen. 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 disorder seems the most probable cause.

Publication types

  • Case Reports

MeSH terms

  • Axilla / pathology
  • Biopsy
  • Diabetes Insipidus / complications
  • Diagnosis, Differential
  • Female
  • Glucocorticoids / therapeutic use
  • Granuloma / complications
  • Granuloma / pathology*
  • Histiocytosis / complications
  • Histiocytosis / diagnosis*
  • Histiocytosis / drug therapy
  • Histiocytosis / pathology
  • Humans
  • Middle Aged
  • Orbit / pathology
  • Prednisone / therapeutic use
  • Remission Induction
  • Xanthomatosis / complications
  • Xanthomatosis / pathology*

Substances

  • Glucocorticoids
  • Prednisone