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Adult xanthogranulomatous disease of the orbit and ocular adnexa: new immunohistochemical findings and clinical review
  1. J A Sivak-Callcott1,
  2. J Rootman2,3,
  3. S L Rasmussen5,
  4. R A Nugent4,
  5. V A White2,3,
  6. D Paridaens6,
  7. Z Currie7,
  8. G Rose7,
  9. B Clark8,
  10. A A McNab9,
  11. F V Buffam2,
  12. J M Neigel10,
  13. M Kazim11
  1. 1Department of Ophthalmology, West Virginia University Eye Institute, Morgantown, WV, USA
  2. 2Department of Ophthalmology and Visual Sciences, University of British Columbia and the Vancouver General Hospital, Vancouver, British Columbia, Canada
  3. 3Department of Pathology, University of British Columbia and the Vancouver General Hospital, Vancouver, British Columbia, Canada
  4. 4Department of Radiology, University of British Columbia and the Vancouver General Hospital, Vancouver, British Columbia, Canada
  5. 5Calgary Laboratory Services and the Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada
  6. 6Department of Oculoplastic, Lacrimal and Orbital Surgery, Rotterdam Eye Hospital, Rotterdam, Netherlands
  7. 7Moorfields Eye Hospital, London, UK
  8. 8Division of Pathology, Institute of Ophthalmology, University of London, UK
  9. 9Orbital, Plastic and Lacrimal Clinic, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
  10. 10Department of Ophthalmology, University of Medicine and Dentistry of New Jersey, New Jersey Medical School, Newark, NJ, USA
  11. 11Departments of Ophthalmology and Surgery, Edward S. Harkness Eye Institute, Columbia University, New York, NY, USA
  1. Correspondence to: Jennifer A Sivak-Callcott MD, Department of Ophthalmology, West Virginia University Eye Institute, One Stadium Drive, Morgantown, WV 26505, USA; jsivak{at}hsc.wvu.edu

Abstract

Background/aims: Adult xanthogranulomatous disease involving the ocular tissues is rare and poorly understood. Adult onset xanthogranuloma (AOX), adult onset asthma and periocular xanthogranuloma (AAPOX), necrobiotic xanthogranuloma (NBX), and Erdheim-Chester disease (ECD) are the four syndromes within this disorder, which is diagnosed by characteristic histopathology. Experience with eight cases prompted a multi-institutional effort to study the histopathology, immunohistochemistry, clinical findings, and systemic associations in this disorder.

Methods: 22 cases, including histopathological slides, were compiled. Published reports were identified by an English language Medline search (1966–2005) and review of reference citations. Each case in this series and the literature was classified as one of four syndromes and then analysed for age onset, sex, skin xanthoma, orbital location, immune dysfunction, internal organ and bone lesions, treatment, and outcome. The histopathology in each of these cases was reviewed by two pathologists. Immunhistochemical stains (CD3, CD4, CD8, L26) were performed in 14 cases where unstained slides were available.

Results: 137 cases were compiled. There was no sex or age difference between syndromes. AOX, AAPOX, NBX affect the anterior orbit, ECD tends to be diffuse and intraconal. Skin lesions are found in all the syndromes. Immune dysfunction was noted in all cases of AAPOX and NBX; 11% of NBX and all ECD patients had internal organ disease. Treatment included surgery, corticosteroids, other chemotherapeutic agents, radiotherapy, and combinations of these. No AOX or AAPOX deaths occurred; 66% of ECD patients died. All 22 cases had xanthoma cells; most had Touton giant cells. Lymphocytes were present in all cases and occurred as aggregates (mostly in AAPOX) or diffuse populations mixed with fibroblasts (mostly in ECD). Immunohistochemistry revealed the majority of these to be CD8+. Necrosis was most marked in NBX.

Conclusion: Adult xanthogranuloma of the orbit is rare, making prospective evaluation or meta-analysis impossible. The best treatment is unknown but seems to be with multiagent chemotherapy guided by histopathological, immunohistochemical, and systemic findings.

  • AAPOX, adult onset asthma and periocular xanthogranuloma
  • AOX, adult onset xanthogranuloma
  • ECD, Erdheim-Chester disease
  • MGUS, monoclonal gammopathy of undetermined significance
  • NBX, necrobiotic xanthogranuloma
  • xanthogranuloma
  • CD-8 cell
  • necrobiotic
  • Erdheim-Chester disease
  • AAPOX, adult onset asthma and periocular xanthogranuloma
  • AOX, adult onset xanthogranuloma
  • ECD, Erdheim-Chester disease
  • MGUS, monoclonal gammopathy of undetermined significance
  • NBX, necrobiotic xanthogranuloma
  • xanthogranuloma
  • CD-8 cell
  • necrobiotic
  • Erdheim-Chester disease

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Footnotes

  • The authors have no financial conflict of interest with the subject matter or materials discussed in this manuscript.

  • Presented at the Vancouver Orbital Symposium—Graves’ Orbitopathy and Orbital Disease: Present Status and Future Challenges, 15–17 March 2002, Vancouver, British Columbia, Canada.

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