IS case 495: Erdheim-Chester disease

Benita Tamrazi, MD

University of Rochester


Publication Date: 2010-08-30

History

Patient is a 45-year-old male with pain.

Discussion

Erdheim-Chester disease (ECD) is a form of histiocytosis. There are two groups of histiocytosis which are distinguished from each other based on immunohistochemical characteristics. The first group derives from the monocyte-macrophage group and the second group derives from a Langerhans cell-dendritic cell group. ECD belongs to the first group. Clinically, the disease affects adults in middle age. The disease unanimously involves long bones and is often symmetric in nature. Patients can present with pain and radiological findings include characteristic osteosclerosis of the long bones with cortical thickening and "bone within bone" appearance. Typically, there is sparing of the flat bones. In approximately fifty percent of patients, there are extra-skeletal abnormalities including kidney, skin, and lung involvement which often appear as smooth thickening of the pleura and fissures. Bone pain is the most frequent of all symptoms associated with ECD and mainly affects the lower limbs, knees and ankles. Treatment includes immunosuppressive therapy such as cyclosporine, interferon and corticosteroids or surgical options such as debulking. Radiation and chemotherapy are also options with varying success.

References

  1. Veyssier-Belot C, Cacoub P, Caparros-Lefebvre D, et al. Erdheim-Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore). 1996 May;75(3):157-69. PMID: 8965684

2 images