Erdheim-Chester disease

Bone
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, PathologyOutlines.com, Inc.

PubMed search: Erdheim-Chester disease [title] bone

Related topics: hemophagocytosis associated variant

Table of Contents

Cite this page: Erdheim-Chester disease. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/boneerdheim.html. Accessed July 14th, 2017.

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

32 year old man with vertebral osteolytic lesions and liver involvement (Arch Pathol Lab Med 2003;127:e337)
35 year old woman with progressive course over 6 years (Mod Pathol 2002;15:666)
47 year old Japanese man (Hum Path 2001;32:649Arch Pathol Lab Med 1991;115:619)
49 year old woman with lymphadenpathy, tender skin papules and a pathologic tibial fracture (Case of the Week #299)
50 year old woman with retroperitoneal and renal sinus xanthogranuloma (Am J Surg Pathol 1994;18:843)
60 year old man with lung and eye involvement (Arch Pathol Lab Med 2004;128:1428)
Patient with Erdheim-Chester disease (Arch Pathol Lab Med 1991;115:619)

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

CD163+

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

CD68 and factor XIIIa (strong), S100 (weak or negative)

Negative stains

CD1a

Electron microscopy description

Lipid droplets in cytoplasm but no Birbeck granules

Additional references