Rosai-Dorfman disease presenting as choroidal melanoma: a case report and review of the literature

Graefes Arch Clin Exp Ophthalmol. 2013 Jan;251(1):295-9. doi: 10.1007/s00417-012-2175-5. Epub 2012 Oct 24.

Abstract

Background: Rosai-Dorfman disease (RDD), also known as sinus histiocytosis with massive lymphadenopathy, is a rare non-malignant proliferation of histiocytes of unknown aetiology. It was first recognised as a distinct clinicopathologic entity in 1969, and is classified as an idiopathic non-Langerhans cell histiocytosis. The disease process is usually self-limiting and often involves lymph nodes, but extranodal involvement is well-described and any anatomic site can be involved.

Methods: We describe a unique case of a 40-year-old male who presented with a fundus mass diagnosed clinically as choroidal melanoma. The tumour showed rapid growth. The patient developed a total retinal detachment and underwent enucleation. The globe contained a choroidal tumour with histologic and immunophenotypic features characteristic of RDD. The literature of ocular Rosai-Dorfman disease was reviewed.

Results: This is the first case in the English literature of intraocular choroidal RDD, mimicking choroidal melanoma.

Conclusions: Rosai-Dorfman disease can present as a mass-producing lesion in the choroid and may mimic other choroidal tumours. The case emphasises the need to consider diagnostic biopsy prior to definitive treatment of choroidal tumours.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Biomarkers, Tumor / analysis
  • Choroid Neoplasms / chemistry
  • Choroid Neoplasms / diagnosis*
  • Diagnosis, Differential
  • Eye Enucleation
  • Fluorescein Angiography
  • Histiocytosis, Sinus / diagnosis*
  • Humans
  • Male
  • Melanoma / chemistry
  • Melanoma / diagnosis*
  • Retinal Detachment / diagnosis
  • Visual Acuity / physiology

Substances

  • Biomarkers, Tumor