Fact-sheet: Erdheim-Chester disease
Updated on 03/26/2020 at 2:00 PM
View all RADEOS cases associated with this fact-sheet
Definition
Non-Langerhans cell histiocytosis characterized by xanthogranulomatous infiltration composed of foamy histiocytes.
Common age at discovery: between 40 and 60 years.
Almost constant bone involvement (distal femoral and proximal tibial metaphyses), with extraosseous involvement in 60% of cases.
Brain involvement: hypothalamic-pituitary axis, pons, and cerebellum.
Clinical features
- bone pain
- exophthalmos
- diabetes insipidus
- abdominal pain and urinary symptoms
- pulmonary interstitial syndrome and retroperitoneal infiltrate
- eyelid xanthomas
Radiography
Homogeneous osteosclerotic areas
Osteolytic lesions
CT
CT of the chest, abdomen, and pelvis looking for vascular abnormalities.
"Hairy kidney" appearance
MRI
T1: hypointense medullary replacement
T2: hyperintense medullary replacement and periostitis.
Hyperintensity in the cerebellum.
Gadolinium: heterogeneous bone enhancement, and multiple nodular hyperintensities in the brain parenchyma.
Preservation of the subchondral region
Nuclear medicine
Tc99m bone scintigraphy: distribution to the metaphyseal-diaphyseal regions of the lower limbs
Management
Pathological confirmation: CD68+ and CD1a-
Treatment with interferon alpha.
Differential diagnosis
Langerhans cell histiocytosis (no mandibular or axial skeleton involvement)
Meningiomas
Wegener granulomatosis