Other tumors of bone
Erdheim-Chester disease

Author: Nat Pernick, M.D. (see Authors page)

Revised: 20 October 2016, last major update June 2005

Copyright: (c) 2003-2016,, Inc.

PubMed search: Erdheim-Chester disease [title] bone

Related topics: hemophagocytosis associated variant

Cite this page: Erdheim-Chester disease. website. Accessed December 15th, 2018.
Definition / general
  • Very rare (< 100 cases reported), nonfamilial, neoplastic, xanthogranulomatous, non Langerhans cell systemic histiocytosis first identified by William Chester in 1930
  • Etiology not well understood
  • Mean age 57 years, range 25 - 76 years, no gender preference
  • Three year survival is 50% - 65%; prognosis usually depends on extent of extraosseous disease
Radiology description
  • Bilateral and symmetric osteosclerosis of long bones (diaphysis and metaphysis), usually lower extremities; occasionally involves axial skeletal
  • Also involvement of retroperitoneum, lungs, kidney, hypothalamus / posterior pituitary (causing diabetes insipidus), retro-orbital space, heart, skin
Radiology images
Images hosted on PathOut server:

Pathological fracture of left tibia

Images hosted on other servers:

CT scans, H&E, CD68, EM

Case reports
Microscopic (histologic) description
  • Diffuse infiltration with large, foamy histiocytes, lymphoid aggregates, fibrosis, rare Touton-like giant cells
Microscopic (histologic) images
Images hosted on PathOut server:

Neck lymph node biopsy

Skin lesion biopsy


Images hosted on other servers:

A / B: pleural and interlobular septal infiltrate with xanthomatous histiocytes and hemophagocytosis (arrows)
C / D: bone marrow has xanthomatous histiocytes and hematopoietic cells with hemophagocytosis (arrows)
E: CD68+ histiocytes
F: factor XIIIa+ histiocyte with hemophagocytosis (arrow)

Positive stains
Negative stains
Electron microscopy description
  • Lipid droplets in cytoplasm but no Birbeck granules