Clinical history 58-yr-old woman from Westvleteren Presenting with a palpable skin nodule on the right breast Mammography/MRI scan: ‘suspicious for malignancy’ Probably the best beer in the world! definitely
Diagnosis? “Could this be Erdheim-Chester disease (‘lipogranulosis’)?” Confirm by Rx legs and bone scintigraphy (bilateral metadiaphyseal sclerosis of long bones is pathognomonic of ECD) “ elementary, my dear Watson”
Erdheim-Chester disease First described in 1930 by Jacob Erdheim and William Chester 80 cases have been reported Histiocytic disorder with lipid-laden macrophages and characteristic bilateral metadiaphyseal involvement of the long bones Differs from LCH in age distribution, macrophage characteristics (S100 and CD1a -) and type of bone involvement (osteosclerotic lesions of long bones versus osteolytic lesions of the axial skeleton) Etiology is unknown
ECD prognosis and therapy Prognosis is related to the extent of the visceral involvement Most patients die within 2 or 3 years following diagnosis, due to congestive heart failure, lung fibrosis or renal insufficiency Treatment options include corticosteriods, radiotherapy, chemotherapy and immunotherapy or combination therapy. None have been highly effective and the disease is typically relentless in its course.
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