Case Study: Rosai-Dorfman Disease and Its Multifaceted Aspects

Abstract

Rosai-Dorfman Disease (RDD) is a rare non-Langerhans histiocytosis, usually self-limited and presenting with massive, painless, bilateral cervical lymphadenopathy, with or without constitutional symptoms. Extranodal disease is frequently present, and may happen in the absence of lymph node involvement, symptomatology and differential diagnosis will depend on the site affected and fatal cases may occur. The authors present two cases of Rosai-Dorfman disease (RDD), diagnosed through immunohistochemistry, with different progressions, one with complete remission and one culminating in death, highlighting the variety of presentations and the diagnostic difficulty. RDD is a rare condition with clinical presentations similar to several diseases, and should be considered in the differential diagnosis of lymphadenopathy with extranodal lesions.

Keywords: Rosai Dorfman disease; diagnosis; differential diagnosis (MeSH-NCBI); immunohistochemistry.

Figure 1

Histopathological findings for patients 1 and 2. (A) Patient 1. Non-neoplastic proliferation showing lymphocyte emperipolesis on 800x increase; (B) Patient 1. Positive immunohistochemistry for CD68 (indicating macrophages) on histiocytic infiltrate; (C) Patient 1. Immunohistochemistry with occasional positivity for S100 on histiocytic infiltrate; (D) Patient 2. Non-neoplastic proliferation showing lymphocyte emperipolesis on 400x increase; (E) Patient 2. Non-neoplastic proliferation showing lymphocyte emperipolesis on 800x increase; (F) Patient 2. Positive immunohistochemistry for CD68 (indicating macrophages) on histiocytic infiltrate; (G) Patient 2. Positive immunohistochemistry for S100; Black arrows indicate emperipolesis on (A, D and E), and indicate immunohistochemistry positivity on (B, C, F and G).