What causes polyostotic sclerosing histiocytosis (Erdheim-Chester disease)?

Updated: Sep 16, 2020
  • Author: Cameron K Tebbi, MD; Chief Editor: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP  more...
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Answer

Polyostotic sclerosing histiocytosis, often referred to as Erdheim-Chester disease or syndrome (ECD), is characterized by excessive proliferation of histiocytes and infiltration of lipid-laden tissue macrophages, multinucleated giant cells, lymphocytes, and histiocytes into the bone marrow. It predominantly affects middle-aged adults. Generalized and symmetrical metaphyseal sclerosis of long bones are characteristic of this disease. In approximately 50% of patients, however, extraskeletal involvement is seen; this includes involvement of the skin, brain (including the pituitary gland), retro-orbital tissues, lungs, heart, pericardium, and kidneys.

Common symptoms include bone pain, mostly in the lower extremities; this pain is often mild and involves the knees and ankles. Other symptoms may include hyperpituitarism, diabetes insipidus, neurologic manifestations such as ataxia, exophthalmus, pericarditis, dyspnea, liver and renal failure, and retroperitoneal fibrosis.  

The etiology of polyostotic sclerosing histiocytosis is not clear. Mutation of NRAS [191] and BRAF-V600E [192] has been reported. [192]


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