Rosai-Dorfman disease, also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare non-cancerous disorder characterized by the overproduction and accumulation of immune cells called histiocytes, particularly in the lymph nodes. This condition predominantly affects children and young adults, although it can occur at any age.
The disease is named after Juan Rosai and Ronald Dorfman, who first described this condition in 1969. It typically presents with painless, firm, and enlarged lymph nodes, primarily in the neck region. In advanced cases, lymph node involvement can extend to other areas, such as the chest, abdomen, and pelvis.
Aside from lymphadenopathy, patients with Rosai-Dorfman disease may also experience other symptoms like fever, weight loss, fatigue, and night sweats. The exact cause of the disease remains unknown, although some evidence suggests it may be triggered by viral or bacterial infections.
Diagnosis of Rosai-Dorfman disease often involves a combination of physical examination, biopsy of the affected lymph node, and medical imaging studies. Histopathological examination of the biopsy sample reveals characteristic features of histiocytes, such as large cells with abundant cytoplasm and engulfed lymphocytes or plasma cells, known as emperipolesis.
Treatment options for Rosai-Dorfman disease usually focus on managing symptoms and reducing lymph node swelling. Surgery may be necessary in cases where lymph nodes compress vital structures. In some instances, corticosteroids, non-steroidal anti-inflammatory drugs, or immunosuppressive agents are prescribed to control inflammation and alleviate symptoms. Although rare, spontaneous remission without active treatment has been reported in some individuals with Rosai-Dorfman disease.
