HAEM5:Erdheim-Chester disease: Difference between revisions

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 |Subtype(s)
 |Erdheim-Chester disease
+|}
+==Definition / Description of Disease==
+Erdheim–Chester disease (ECD) is a histiocytic neoplasm characterized by accumulation of mature histiocytes, associated with inflammation and fibrosis in many different organs . <span style="color:#0070C0">(''Instructions: Brief description of approximately one paragraph - include disease context relative to other WHO classification categories, diagnostic criteria if applicable, and differential diagnosis if applicable. Other classifications can be referenced for comparison.'') </span>
+==Synonyms / Terminology==
+Erdheim–Chester disease (ECD) <span style="color:#0070C0">(''Instructions: Include currently used terms and major historical ones, adding “(historical)” after the latter.'') </span>
+==Epidemiology / Prevalence==
+Rare histiocytic neoplasm with median age at diagnosis being 55 years, male predilection. Many cases might be underdiagnosed.
+==Clinical Features==
+Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
+{| class="wikitable"
+|'''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
+|-
+|'''Laboratory and imaging 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
+|}
+==Sites of Involvement==
+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. <span style="color:#0070C0">(''Instruction: Indicate physical sites; <span class="blue-text">EXAMPLE:</span> nodal, extranodal, bone marrow'') </span>
+==Morphologic Features==
+Histopathology:
+*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.
+==Immunophenotype==
+Put your text here and fill in the table <span style="color:#0070C0">(''Instruction: Can include references in the table. Do not delete table.'') </span>
+{| class="wikitable sortable"
+|-
+!Finding!!Marker
+|-
+|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
+|-
+|Positive (subset)||<span class="blue-text">EXAMPLE:</span> CD2
+|-
+|Negative (universal)||CD1a and CD207
+|-
+|Negative (subset)||<span class="blue-text">EXAMPLE:</span> CD4
 |}