Disease Overview

Rosai-Dorfman disease (RDD) is characterized by an overproduction of white blood cells, also known as histiocytes, primarily in the lymph nodes, commonly affecting those in the neck (cervical nodes). Other lymph nodes and various body parts including the skin, upper respiratory tract, and sinuses, may also be involved. RDD is not commonly life-threatening. Patient symptoms often resolve on their own in many cases. RDD is most commonly diagnosed in patients 10 years old and younger. However, RDD also affects adults, both men and women equally. 

Signs and Symptoms

Rosai-Dorfman disease (RDD) can primarily affect lymph nodes or extend to other parts of the body. Patients most commonly experience enlarged lymph nodes on both sides of the neck, groin, armpits, and central chest. Although the enlarged lymph nodes are painless, patients can feel uncomfortable with the nodes swelling and increasing in size. Moreover, swelling of the nodes can cause fever.

In about 40% of cases, RDD progresses to involve the skin, soft tissues, nasal cavities, eyes, bones, salivary glands, and central nervous system. Rarely, it affects organs like the kidneys, lungs, liver, breast, heart, and digestive tract.

Less common symptoms include anemia with paleness, fatigue, and shortness of breath; easy bruising or bleeding due to low platelet counts; and increased infection risk from low white blood cell counts. Additional symptoms may include weight loss, respiratory issues, nasal problems, nosebleeds, nasal deformity (saddle-nose), tonsil or sinus inflammation, difficulty swallowing or speaking, bulging eyes, headaches, seizures, night sweats, decreased sensation, paralysis, joint pain, and painless lymph node masses.

Adults with RDD may also suffer severe pain from bone lesions or fractures that resist healing despite treatment. Some experience persistent pain without clear X-ray findings.

Diagnosis

Diagnosing RDD involves performing a tissue biopsy at the affected site, typically the lymph nodes, skin, bone, liver, lung, or bone marrow. This biopsy entails numbing the area, extracting cell samples with a needle, and examining them under a microscope to detect genetic changes.

Diagnostic procedures, similar to those used for Langerhans cell histiocytosis, include blood and urine tests, X-rays, CT scans using contrast dye for detailed images, MRIs with contrast dye for internal imaging, ultrasounds for organ visualization using sound waves, and bone scans involving a small amount of radioactive material to image bone structure.

RDD severity is assessed based on lymph node involvement and lesions beyond lymph nodes. In cases with elevated blood antibody levels, plasmapheresis may be necessary to filter these antibodies from the bloodstream.

Disease Management and Treatment

In most patient cases, symptoms of RDD disappear on their own without treatment. Due to this, the primary approach is to observe patients to determine if their symptoms are affecting their quality of life. This will be the determining factor if patients need treatment or not. In the few patient cases where symptoms persist, treatment options include alfa-interferon (immunotherapy), prednisone (corticosteroid), and chemotherapy. Alternatively, patients with severe disease have the option to undergo surgery to remove the histiocytic lesions. Also, patients can receive radiation therapy, where radiation is applied to the affected area to destroy the cells.