Erdheim-Chester disease associated with retroperitoneal xanthogranuloma

Simpson, F G; Robinson, Philip; Hardy, G. J.; Losowsky, M. S.

doi:10.1259/0007-1285-52-615-232

Cited by 41 publications

(10 citation statements)

References 7 publications

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“…Both patients had diabetes insipidus, which is commonly observed in ECD and a reflection of pituitary involvement; progressive dyspnea, with infiltration of the lungs and widespread mediastinal involvement; anemia, possibly due to the observed bone marrow involvement; and hepatomegaly, edema, ascites, and hypoalbuminemia, in part, stemming from the liver infiltration. Both patients also showed diffuse retroperitoneal xanthogranulomas, which has previously been observed in ECD [10,14,24]. Our first patient had proptosis and paralysis due to spinal cord involvement; the latter is a feature that very rarely complicates ECD [9].…”

Section: Discussionsupporting

confidence: 73%

Systemic Erdheim–Chester disease

et al. 2008

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Erdheim-Chester disease is a rare xanthomatosis that may present with characteristic radiologic and histologic features. There have been conflicting reports regarding the nature of this process, including whether it represents a reactive or neoplastic lesion. We present the clinical histories, pathologic findings, and an analysis of clonality using the HUMARA assay in two patients diagnosed with Erdheim-Chester disease. One case has previously been documented in the literature. Histologically, both cases demonstrated sheets of foamy xanthomatous histiocytes with widespread infiltration of the viscera. These regions were punctuated by variable amounts of inflammation, including lymphocytes, plasma cells, and occasional Touton-type giant cells. The histiocytes were immunoreactive for CD68 and CD163; they did not stain with S100 or CD1a. One case was found to be monoclonal; however, the second case had extensive DNA degradation; thus, clonality could not be assessed. In addition to contributing an additional report of this rare disease to the literature, we demonstrate the histiocytes to express CD163, thereby further supporting a monocyte/macrophage basis. Moreover, in confirming clonality, our observations lend additional evidence to the view that Erdheim-Chester disease represents a neoplastic process.

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Section: Discussionsupporting

confidence: 73%

Systemic Erdheim–Chester disease

et al. 2008

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“…Infiltration of the spleen despite splenomegaly has never been proven. One case presented with infiltration of the serosa of the colon [25].…”

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester disease: a case report and literature overview

et al. 1999

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Erdheim-Chester (EC) disease belongs to the group of lipoid granulomatosis. Symmetric sclerosis of the meta- and diaphysis of long tubular bones are pathognomonic radiologic changes. Additionally, other skeletal segments can be affected. Extraskeletal manifestations can occur in almost all organs; lungs, pericardium, retroperitoneum, skin, and orbita play particularly important roles. The last case of 38 cases of Erdheim-Chester disease with an extraordinary mediastinal and perirenal involvement is described. For the second time following the initial description by Chester, an axial skeletal pattern of eburnated vertebra is shown.

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“…Typical systemic features include osteosclerotic lesions in the metaphysis of long tubular bones, exophthalmos, pulmonary and retroperitoneal fibrosis. [1][2][3][4][5][6] Central nervous system involvement is rare, with diabetes insipidus (DI) and cerebellar signs representing the most common neurological symptoms. [7][8][9][10][11] Occasionally, intracerebral and dural tumour-like lesions have been reported.…”

Section: Erdheim-chester Diseasementioning

confidence: 99%