HAEM5:Erdheim-Chester disease: Difference between revisions
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|Subtype(s) | |Subtype(s) | ||
|Erdheim-Chester disease | |Erdheim-Chester disease | ||
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==Additional Information== | ==Additional Information== | ||
This disease is <u>defined/characterized</u> as detailed below: | |||
* Erdheim–Chester disease (ECD) is a histiocytic neoplasm characterized by accumulation of mature histiocytes, associated with inflammation and fibrosis in many different organs<ref name=":0">John Chan, et al., Erdheim–Chester disease, in WHO Classification of Tumours Editorial Board, eds, WHO Classification of Tumours, Haematolymphoid Tumours Part A. 5th edition, IARC Press:Lyon, 2024.</ref>. | |||
The <u>epidemiology/prevalence</u> of this disease is detailed below: | |||
* Rare histiocytic neoplasm with median age at diagnosis being 55 years, male predilection. Many cases might be underdiagnosed<ref name=":0" />. | |||
The <u>clinical features</u> of this disease are detailed below: | |||
* Signs and symptoms - Asymptomatic or presents with fever, fatigue; Site related symptoms like bone pain, exophthalmos, xanthelasma, diabetes insipidus; CNS-mass effect or neurodegerative type symptoms; Cardiac tamponade; Painful abdominal mass<ref name=":0" /> | |||
* Laboratory findings - Symmetrical osteosclerosis of the leg bones on PET with bilateral uptake of FDG; Hairy-kidney appearance in cases of bilateral perinephric involvement; Mass-like infiltration of the right atrium on MRI; Sclerosis of sinuses of the face on CT; May be associated with chronic myelomonocytic leukaemia, Langerhans cell histiocytosis<ref name=":0" /> | |||
The <u>sites of involvement</u> of this disease are detailed below: | |||
* ECD can involve any organ, mostly excludes lymph nodes, spleen and liver. In majority of cases (80-95%) involves long bones, bilaterally and symmetric. Perinephric, periaortic involvement also frequent. Pitutary, neurologic, pulmonary, cardiac, serosal and cutaneous involvement (manifesting as xanthelasma or papule) also noted<ref name=":0" />. | |||
The <u>morphologic features</u> of this disease are detailed below: | |||
Histopathology<ref name=":0" />: | |||
*Infiltration by foamy, lipid-laden, and/or small mononuclear histiocytes and variable proportions of Touton giant cells, small lymphocytes, plasma cells, and/or neutrophils. | |||
*Fibrosis usually present | |||
*Can be misdiagnosed as reactive fibroinflammatory process if there is extensive fibrosis or it may also show partial morphological and immunophenotypic overlap with Rosai–Dorfman disease or with reticulohistiocytosis or Langerhans cell histiocytosis. | |||
The <u>immunophenotype</u> of this disease is detailed below: | |||
* Positive (universal) - CD163, CD68, CD14, and CD4; Positive for factor XIIIa, fascin, and (less commonly) S100; Diffuse strong cytoplasmic staining with VE1 monoclonal antibody suggestive of BRAF p.V600E mutation, but should be confirmed with molecular analysis; Expression of phosphorylated ERK also noted frequently<ref name=":0" /> | |||
* Negative (universal) - CD1a and CD207<ref name=":0" /> | |||
==Links== | ==Links== | ||
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==References== | ==References== | ||
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==Notes== | ==Notes== | ||