Virchows Archiv

, Volume 452, Issue 2, pp 221–227

Systemic Erdheim–Chester disease

Authors

  • Brendan Craig Dickson
    • Department of Pathology and Laboratory MedicineMount Sinai Hospital
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
  • Vaijayanti Pethe
    • Department of Pathology and Laboratory MedicineMount Sinai Hospital
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
    • Samuel Lunenfeld Research InstituteMount Sinai Hospital
  • Catherine Tse-Shing Chung
    • Department of Pathology and Laboratory MedicineMount Sinai Hospital
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
  • David John Charles Howarth
    • Department of Pathology and Laboratory MedicineMount Sinai Hospital
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
  • Juan Manuel Bilbao
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
    • Department of Anatomic PathologySunnybrook Health Science Center
  • Victor Lodovico Fornasier
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
    • Division of PathologySt. Michael’s Hospital
  • Catherine Joanne Streutker
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
    • Division of PathologySt. Michael’s Hospital
  • Linda Marilyn Sugar
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
    • Department of Anatomic PathologySunnybrook Health Science Center
    • Department of Pathology and Laboratory MedicineMount Sinai Hospital
    • Department of Laboratory Medicine and PathobiologyUniversity of Toronto
    • Samuel Lunenfeld Research InstituteMount Sinai Hospital
    • Department of Pathology and Laboratory Medicine, Samuel Lunenfeld Research InstituteMount Sinai Hospital
Case Report

DOI: 10.1007/s00428-007-0538-9

Cite this article as:
Dickson, B.C., Pethe, V., Chung, C.T. et al. Virchows Arch (2008) 452: 221. doi:10.1007/s00428-007-0538-9

Abstract

Erdheim–Chester disease is a rare xanthomatosis that may present with characteristic radiologic and histologic features. There have been conflicting reports regarding the nature of this process, including whether it represents a reactive or neoplastic lesion. We present the clinical histories, pathologic findings, and an analysis of clonality using the HUMARA assay in two patients diagnosed with Erdheim–Chester disease. One case has previously been documented in the literature. Histologically, both cases demonstrated sheets of foamy xanthomatous histiocytes with widespread infiltration of the viscera. These regions were punctuated by variable amounts of inflammation, including lymphocytes, plasma cells, and occasional Touton-type giant cells. The histiocytes were immunoreactive for CD68 and CD163; they did not stain with S100 or CD1a. One case was found to be monoclonal; however, the second case had extensive DNA degradation; thus, clonality could not be assessed. In addition to contributing an additional report of this rare disease to the literature, we demonstrate the histiocytes to express CD163, thereby further supporting a monocyte/macrophage basis. Moreover, in confirming clonality, our observations lend additional evidence to the view that Erdheim–Chester disease represents a neoplastic process.

Keywords

Erdheim–Chester diseaseClonalityHUMARA assayNeoplasmXanthomatosisCase reportCD163

Copyright information

© Springer-Verlag 2007