Diagnosis

Diagnosis

Rosai-Dorfman disease, RDD (Sinus histiocytosis with massive lymphadenopathy)

Discussion

RDD is a rare and heterogeneous entity most commonly associated with massive painless bilateral cervical lymphadenopathy in a child or adolescent (male predominant).1 The etiology of RDD is elusive, although viral agents (e.g., HHV-6) have been implicated.2 Approximately 85% of patients with RDD present in the context of otherwise-normal health.3 In most patients, RDD is self-limited with a benign course even without medical treatment. However, the disease is fatal in approximately 5-11% of cases, especially among patients with extranodal involvement.4 Overwhelmingly, the most common site of extranodal involvement is the head and neck.3 

The clinical course can be unpredictable with exacerbations requiring high-dose corticosteroid or immunosuppressant therapies. Frequently, patients are classified using the following designations: (1) disease restricted to lymph nodes that enlarge and regress spontaneously, (2) patients with immunologic abnormalities at presentation with widespread nodal disease, or (3) several extranodal site involvement. These categories exhibit different patterns of clinical progression and associated mortality rates.5

Several characteristic histopathological findings support the diagnosis of RDD. Excisional lymph node biopsy can reveal histiocytes phagocytosing lymphocytes, plasma cells, and granulocytes. Diffuse background lymphoplasmacytic infiltration may be observed alongside the formation of germinal follicles and mantle zone architecture.5 Immunohistochemical staining reveals histiocytes with positivity for S-100, CD68, and CD163, while CD1a is often negative.5 

In summary, RDD is a clinicopathologic diagnosis characterized by non-tender bilateral cervical lymphadenopathy and possible extranodal involvement. The clinical course is unpredictable but may be influenced by the extent of extranodal involvement. Patients require close monitoring for rare malignancy transformation and to assess need for more aggressive medical intervention.

References

1. Foucar E, Rosai J, Dorfman R: Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): review of the entity. Semin Diagn Pathol 7:19-73, 1990

2. Levine PH, Jahan N, Murari P, Manak M, Jaffe ES: Detection of human herpesvirus 6 in tissues involved by sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease). J Infect Dis 166:291-295, 1992

3. La Barge DV, 3rd, Salzman KL, Harnsberger HR, Ginsberg LE, Hamilton BE, Wiggins RH, 3rd, et al: Sinus histiocytosis with massive lymphadenopathy (Rosai-Dorfman disease): imaging manifestations in the head and neck. AJR Am J Roentgenol 191:W299-306, 2008

4. Goodnight JW, Wang MB, Sercarz JA, Fu YS: Extranodal Rosai-Dorfman disease of the head and neck. Laryngoscope 106:253-256, 1996

5. Rosai-Dorfman Disease, https://histiocytesociety.org/document.doc?id=54, Accessed: July 17, 2017

Go Home