Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Case Study
  • Published:

A case of Erdheim–Chester disease initially mistaken for Ormond's disease

Nature Clinical Practice Rheumatology volume 4, pages 50–55 (2008)Cite this article

Abstract

Background A 54-year-old man presented with fever, abdominal pain, anemia, elevated C-reactive protein level and decreased renal function. Idiopathic retroperitoneal fibrosis (Ormond's disease) had been diagnosed in the past, leading to surgical ureterolysis. Re-evaluation of the CT scans and histological biopsy samples revealed unusual sclerosis of the long bones and diffuse infiltrates of foamy histiocytes in the bone marrow and the retroperitoneum.

Investigations Physical examination, laboratory tests including hemoglobin concentration, erythrocyte sedimentation rate, C-reactive protein level, β2-microglobulin level, creatinine level, CT of the chest and abdomen, bone scintigraphy, bone marrow and soft tissue biopsies and immunohistochemistry.

Diagnosis Erdheim–Chester disease with retroperitoneal fibrosis and bone sclerosis.

Management Treatment with glucocorticoids failed. The patient's symptoms improved significantly after initiation of interferon-α therapy.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Figure 1: Radiologic findings.
Figure 2: Technetium-99 (99Tc) bone scintigraphy showing a symmetric and abnormally increased uptake predominantly in the metadiaphyseal regions of the long bones of the lower limbs.
Figure 3: Histology of the patient's biopsy samples.

References

  1. Stoppacciaro A et al. (2006) Immunohistochemical evidence of a cytokine and chemokine network in three patients with Erdheim–Chester disease: implications for pathogenesis. Arthritis Rheum 54: 4018–4022

    Article  CAS  Google Scholar 

  2. Laman JD et al. (2003) Langerhans-cell histiocytosis 'insight into DC biology'. Trends Immunol 24: 190–196

    Article  CAS  Google Scholar 

  3. Fleming MD et al. (2003) Coincident expression of the chemokine receptors CCR6 and CCR7 by pathologic Langerhans cells in Langerhans cell histiocytosis. Blood 101: 2473–2475

    Article  CAS  Google Scholar 

  4. Al-Quran S et al. (2002) Erdheim–Chester disease: case report, PCR-based analysis of clonality, and review of literature. Mod Pathol 15: 666–672

    Article  Google Scholar 

  5. Veyssier-Belot C et al. (1996) Erdheim–Chester disease. Clinical and radiologic characteristics of 59 cases. Medicine (Baltimore) 75: 157–169

    Article  CAS  Google Scholar 

  6. Watermann DF et al. (2001) Skin manifestations of Erdheim–Chester disease. Case report and review of the literature [German]. Hautarzt 52: 510–517

    Article  CAS  Google Scholar 

  7. Haroche J et al. (2004) Cardiovascular involvement, an overlooked feature of Erdheim–Chester disease: report of 6 new cases and a literature review. Medicine (Baltimore) 83: 371–392

    Article  Google Scholar 

  8. Gupta A et al. (2002) Erdheim–Chester disease with prominent pericardial involvement: clinical, radiologic, and histologic findings. Am J Med Sci 324: 96–100

    Article  Google Scholar 

  9. Boisgard S et al. (2000) Intraosseous xanthoma without lipid disorders. Case-report and literature review. Joint Bone Spine 67: 71–74

    CAS  PubMed  Google Scholar 

  10. Neame RL and Struthers GR (2003) Erdheim–Chester disease with early onset atherosclerosis and pseudo-malignant phase. Ann Rheum Dis 62: 271–272

    Article  CAS  Google Scholar 

  11. Dion E et al. (2006) Bone involvement in Erdheim–Chester disease: imaging findings including periostitis and partial epiphyseal involvement. Radiology 238: 632–639

    Article  Google Scholar 

  12. Bangard C et al. (2004) Erdheim–Chester disease versus multifocal fibrosis and Ormond's disease: a diagnostic dilemma. Clin Radiol 59: 1136–1141

    Article  CAS  Google Scholar 

  13. Braiteh F et al. (2005) Successful treatment of Erdheim–Chester disease, a non-Langerhans-cell histiocytosis, with interferon-alpha. Blood 106: 2992–2994

    Article  CAS  Google Scholar 

  14. Haroche J et al. (2006) Variability in the efficacy of interferon-alpha in Erdheim–Chester disease by patient and site of involvement: results in eight patients. Arthritis Rheum 54: 3330–3336

    Article  CAS  Google Scholar 

Download references

Acknowledgements

K Loddenkemper and B Hoyer contributed equally to this work.

Author information

Authors and Affiliations

  1. and G-R Burmester is a Professor of Medicine at the Department of Rheumatology and Clinical Immunology; C Loddenkemper is a Professor at the Institute of Pathology; K-G Hermann is a Senior Consultant and P Rogalla is a Senior Consultant at the Department of Radiology; and G Förster is a Senior Consultant at the Institute of Nuclear Medicine, K Loddenkemper is a Senior Consultant, B Hoyer is a Resident, F Buttgereit is a Professor, F Hiepe is a Professor, Charité University Medicine, Berlin, Germany.,

    Konstanze Loddenkemper, Bimba Hoyer, Christoph Loddenkemper, Kay-Geert Hermann, Patrick Rogalla, Gregor Förster, Frank Buttgereit, Falk Hiepe & Gerd-Rüdiger Burmester

  2. C Loddenkemper is a Professor at the Institute of Pathology,

    Konstanze Loddenkemper, Bimba Hoyer, Christoph Loddenkemper, Kay-Geert Hermann, Patrick Rogalla, Gregor Förster, Frank Buttgereit, Falk Hiepe & Gerd-Rüdiger Burmester

Authors
  1. Konstanze Loddenkemper
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Bimba Hoyer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Christoph Loddenkemper
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Kay-Geert Hermann
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Patrick Rogalla
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Gregor Förster
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Frank Buttgereit
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Falk Hiepe
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Gerd-Rüdiger Burmester
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Konstanze Loddenkemper.

Ethics declarations

Competing interests

The authors declare no competing financial interests.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Loddenkemper, K., Hoyer, B., Loddenkemper, C. et al. A case of Erdheim–Chester disease initially mistaken for Ormond's disease. Nat Rev Rheumatol 4, 50–55 (2008). https://doi.org/10.1038/ncprheum0677

Download citation

  • Received:

  • Accepted:

  • Issue Date:

  • DOI: https://doi.org/10.1038/ncprheum0677

This article is cited by

Search

Advanced search

Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing