Sinus histiocytosis with massive lymphadenopathy
Rarely, Rosai-Dorfman disease may be associated with other diseases including large B-cell lymphoma, myelodysplastic syndrome, plasmacytoma, idiopathic hypereosinophilic syndrome, Hodgkin's lymphoma, sickle cell disease, and giant cell hepatitis. Other associated dermatologic conditions reported in the past include mycetoma, morphea, erythroderma, and Langerhans cell histiocytosis.
Etiology is not fully understood. It has been speculated that the initial histiocytic proliferation could be a result of an asymptomatic chronic infection or an abnormal exaggerated immune response to yet unknown antigen(s). Human herpes virus 6 (HHV6) has been isolated from the involved tissue of few patients. Raised Epstein-Barr virus (EBV) and herpes simplex virus (HSV) antibody titers have also been reported. Associations with Klebsiella, Brucella, parvovirus B19, and cytomegalovirus have been suggested. Rosai-Dorfman disease has also been reported in HIV-positive patients.
About a third of patients with Rosai-Dorfman disease have mutually exclusive mutations in KRAS and MAP2K1.
Treatment is not necessary, as the disease is self-limiting in most cases. Treatment is mainly needed to halt the natural progression only in a minority of patients where massive nodal or extranodal enlargement interferes with organ function or threatens life. The ideal treatment for Rosai-Dorfman disease is as yet undefined.
D76.3 – Other histiocytosis syndromes
34287003 – Sinus histiocytosis with massive lymphadenopathy
Differential Diagnosis & Pitfalls
Rosai-Dorfman disease from these diseases with poor prognosis. Cytologic atypia and the aggressive clinical course of these diseases establish the diagnosis in most cases, while Rosai-Dorfman disease will show classic histopathologic features including emperipolesis.
Other conditions that may be included in the differential:
- Acquired immunodeficiency syndrome
- Reactive sinus histiocytosis
- Granulomatosis with polyangiitis
- Viral infections
- Hemophagocytic syndrome
- Kikuchi-Fujimoto disease (necrotizing lymphadenitis) (rare, benign, self-limiting)