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Erdheim-Chester disease

Eric Jacobsen, MD
Section Editor
Arnold S Freedman, MD
Deputy Editor
Alan G Rosmarin, MD


Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic disorder most commonly characterized by multifocal osteosclerotic lesions of the long bones demonstrating sheets of foamy histiocytes on biopsy, with or without histiocytic infiltration of extraskeletal tissues. ECD was first described by Erdheim and Chester in 1930 [1]. Only several hundred cases have been reported in the medical literature since that time.

Histocytic disorders are thought to be derived from mononuclear phagocytic cells (macrophages and dendritic cells) or histiocytes. This group has generally been divided into Langerhans cell histiocytosis and non-Langerhans histiocytosis. Langerhans cell histiocytosis is so named for its presumed derivation from the Langerhans cells, which are specialized dendritic cells found in the skin and mucosa. In contrast, non-Langerhans histiocytoses are thought to be derived from the monocyte-macrophage lineage.

The epidemiology, clinical manifestations, pathologic features, diagnosis, and management of ECD will be presented here. The diagnosis and management of Langerhans cell histiocytosis is presented separately. (See "Clinical manifestations, pathologic features, and diagnosis of Langerhans cell histiocytosis" and "Pulmonary Langerhans cell histiocytosis" and "Langerhans cell histiocytosis (eosinophilic granuloma) of bone in children and adolescents".)


ECD is a rare histiocytic disorder and the incidence is unknown. Fewer than 500 cases have been reported in the published literature [2]. ECD has been diagnosed in all age groups, but is most common in adults. The mean age at diagnosis is 53 years [2]. There is a slight male predominance. Although there is speculation that ECD and other histiocyte disorders may represent an aberrant response to infection, no infectious etiology has been identified. There is no evidence that ECD is an inheritable genetic disorder.


ECD, and the related histiocytic disorder Langerhans cell histiocytosis, are hematopoietic neoplasms that represent clonal proliferation of myeloid progenitor cells. This finding was demonstrated by tracking of the BRAF V600E mutation in subsets of dendritic cells, mature monocytes, committed myeloid progenitors, and CD34+ cells of affected ECD patients [3,4]. Furthermore, hematopoietic stem/progenitor cells that carry the BRAF V600E mutation can recapitulate the phenotype of ECD by differentiation in vitro and in a xenograft model.


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Literature review current through: Aug 2017. | This topic last updated: Aug 07, 2017.
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