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Rheum Dis Clin North Am. 2013 May;39(2):299-311. doi: 10.1016/j.rdc.2013.02.011. Epub 2013 Mar 14.

Erdheim-Chester disease.

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Department of Internal Medicine, French Reference Center for Rare Autoimmune and Systemic Diseases, Assistance Publique-Hôpitaux de Paris, Pitié-Salpêtrière Hospital, 47-83 boulevard de l'Hôpital, 75651 Paris Cedex 13, France.


Erdheim-Chester disease (ECD) is a rare form of non-Langerhans' cell histiocytosis. Diagnosis of ECD is based on the identification in tissue biopsy of histiocytes, which are typically foamy and immunostain for CD68+ CD1a-. Central nervous system involvement is a major prognostic factor in ECD. Interferon alpha may be the best first-line therapy and significantly improves survival of ECD. The BRAFV600E mutation is found in more than 50% of cases. Vemurafenib has been used for a small number of patients harbouring this mutation; inhibition of BRAF activation by vemurafenib was highly beneficial in these cases of severe multisystemic and refractory ECD.

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