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Rosai-Dorfman disease (RDD), first described in 1969, is a disease that occurs when the body produces too many histiocytes in the lymph nodes. These histiocytes most often accumulate in the nodes in the neck (cervical nodes), though other lymph nodes and other parts of the body may also be affected. Histiocytes may also build up in the skin, upper respiratory tract, and sinuses. Rosai-Dorfman disease is seldom life-threatening. In many instances, the patient’s symptoms resolve on their own.
RDD can be limited to the lymph nodes or affect other body systems beyond the nodes. The majority of patients experience enlarged lymph nodes on both sides of the next. While often painless, these nodes can swell and grow rather larger. Swelling may also be reported in the lymph nodes of the groin, armpits, and in the central portion of the chest. This swelling may be accompanied by fever.
In about 40% of patients, the disease occurs outside of the lymph nodes, affecting skin and soft tissue, nasal cavities, eyes and eyelids, bones, salivary glands, and central nervous system. In rare instances, it affects the kidneys, lungs, liver, breast, heart, and digestive tracts.
Less frequent symptoms of RDD may include:
- Low blood counts. As the number of oxygen-carrying red blood cells declines, patients may develop anemia, appearing pale, tired, or short of breath. A decline in platelets that normally help the blood clot may lead to easy bruising or bleeding. A decline in white blood cells puts patients at increased risk for infections that can sometimes be life-threatening.
- Weight loss
- Shortness of breath
- Blockage/discharge of the nose
- Deformity of the nose (saddle-nose)
- Inflammation of the tonsils/sinuses
- Difficulty swallowing or speaking
- High-pitched breathing
- Bulging eyes, decreased vision
- Night sweats
- Decreased sensation
- Other blood abnormalities (increased sedimentation/inflammatory cell rate, abnormal protein levels)
- Joint pain
- A slow-growing, painless mass in the lymph nodes
Many adult patients with this condition have severe pain caused by bone lesions or fractures that do not heal completely with therapy. Some report pain even when no cause can be identified by an X-ray.
The diagnosis of RDD is made following a tissue biopsy from the affected site. After numbing the area, physicians insert a needle into the tissue to extract a sample of the patient’s cells. They then examine those cells under a microscope and test them for certain genetic changes. This procedure can be performed of the lymph nodes, skin, bone, liver, lung, or bone marrow.
Further diagnostic testing is similar to that used for Langerhans cell histiocytosis, involving blood and urine tests, X-rays, and the following:
- CT scan, an X-ray that takes a number of detailed pictures at different angles inside the body, after a contrast dye is injected into the body through a vein
- MRI, another type of X-ray that takes a number of detailed pictures inside the body, using a contrast dye injected into the vein
- Ultrasound, using high-energy sound waves to form a picture of the internal organs
- Bone scan, where the patient receives an intravenous injection of a small amount of a radioactive material. This travels to the bones, where it is detected by X-ray, giving a picture of their internal structure.
The severity of the disease is determined according to the number of lymph node groups affected and the sites outside of the lymph nodes. In some cases, the immunoglobulin (antibody levels) in the blood may be so high that they may need to be filtered from the blood by a treatment called plasmapheresis.
The true number of RDD cases is unknown. Though it is most commonly diagnosed in the first 10 years of life, it is also found in adults, affecting men and women equally. While the exact cause of RDD has yet to be discovered, researchers believe it may be related to altered immune responses and infections by agents such as varicella-zoster, the herpes virus, Epstein-Barr, cytomegalovirus (CMV) present in chicken pox and mononucleosis; Brucella, a bacteria found in cattle, goats, camels, dogs, and pigs that can spread to humans through direct contact or through food consumption; and Klebsiella, a bacteria found in the intestines of animals and humans and some plants.
Known risk factors include having a sibling with Hirschsprung's disease, an inherited syndrome that is more common in males. Hirschsprung's disease is linked to inherited heart problems and Down syndrome and, possibly, with multiple endocrine neoplasia, type IIB—a condition that causes noncancerous tumors in the mucous membranes and adrenal glands (located above the kidneys) as well as cancer of the thyroid gland (located at the base of the neck).
In as many as 80% of patients, the symptoms of Rosai-Dorfman disease disappear without any treatment after a few months or years. This is called spontaneous remission.
The preferred approach is continuous observation to determine whether or not the patient will require any treatment. When necessary, treatment is directed at the particular symptom.
Patients with severe disease may require surgery to remove histiocytic lesions.
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Chemotherapy and Other Drugs
In serious cases, physicians may also prescribe certain drugs, including steroids (e.g., prednisone), alfa-interferon (a laboratory-made copy of a protein that helps the body response to infection), and chemotherapy.
Radiation therapy for RDD may include radiation directed to the area involved in RDD.