Rosai-Dorfman Disease RD also known as sinus histiocytosis with massive lymphadenopathy (SHML), is a rare histiocytic disorder which involves the over-production of a type of white blood cell called non Langerhans sinus histiocyte. These cells then accumulate, most often in the lymph nodes, but may occur in other areas of the body and can lead to organ damage. The reason that these cells over-produce is not known, although many possibilities have been considered, including viral, bacterial, infection, environmental, and genetic causes.
In 1969, two pathologists, Juan Rosai and Ronald Dorfman, reported a distinct histiocytic disorder in several patients with massive enlargement of the lymph nodes, as well as other symptoms. They named this condition sinus histiocytosis with massive lymphadenopathy, and the name has since come to be known as Rosai-Dorfman disease.
The true number of RD cases is not known, although it does occur worldwide and seems to affect equal numbers of males and females. It is most commonly seen in the first 10 years of life, but it also occurs in adult patients.
Because this disease is so rare, no large studies have been performed, and there is no established, widely-accepted treatment. However, RD is usually not life-threatening, and many patients do not require treatment.
The Histiocytosis Association continues to work closely with an international group of physicians, known as the Histiocyte Society, who are dedicated to studying the histiocytic disorders. Through their combined efforts, awareness about the disease has increased, more research has been undertaken, and progress has been made in the understanding of this disease.
What are the symptoms of RD?
Rosai-Dorfman may affect lymph nodes only, it can affect lymph nodes plus other body systems, or it can occur in body systems without lymph node involvement. However, more than 87% of patients present with enlargement of the lymph nodes in the neck. This is usually on both sides and is painless but often get very big. Within the lymph node system, it can also occur in the nodes in the groin, armpits, and in the central part of the chest.
Location of this disease outside of the lymph nodes occurs in approximately 40% of cases. In order of frequency, this disease affects skin and soft tissue (16%), nasal cavity (16%), eyes/eyelids (11%), bones (11%), central nervous system (7%), salivary glands (7%), kidney (3%), airway (respiratory tract) 3%, and liver 1%. The breast, digestive tract, and heart are affected in less than 1% of cases.
Symptoms of RD depend on the site of involvement and can include:
- Lymph node enlargement (with or without pain).
- Fever.
More rarely:
- Weakness.
- Paleness/anemia.
- Weight loss.
- Shortness of breath.
- Blockage/discharge of the nose.
- Nosebleeds.
- Deformity of the nose (saddle-nose).
- Inflammation of the tonsils/sinuses.
- Difficulty swallowing or speaking.
- High-pitched breathing.
- Eye bulging/decreased vision.
- Headaches.
- Seizures.
- Night sweats.
- Decreased sensation.
- Paralysis.
- Blood abnormalities (low red blood cells, white cell abnormalities, increased sedimentation/inflammatory cell rate, abnormal protein levels, etc).
- Joint pain.
- Slowly growing, painless mass.
Many adults with RD experience severe and sometimes overwhelming pain associated with this disease. While pain can be caused by bone lesions or bone defects that do not heal completely with therapy, some patients have pain even when there is no active disease seen on x-ray. The cause of this pain is not understood; however, it is being currently explored in research. Pain is considered a complication of RD that should be fully evaluated by a physician and treated with appropriate medications.
It is important to remember that symptoms alone do not make the diagnosis of RD disease. Thus, it is important to consult a physician to receive a thorough workup and accurate diagnosis.
