Rosai-Dorfman Disease

What is Rosai-Dorfman disease?

Rosai-Dorfman disease (RDD) is a rare, benign condition involving an overgrowth of your body’s white blood cells called histiocytes. Usually, the excess histiocytes cause enlarged lymph nodes in your neck (lymphadenopathy), but they can affect other lymph nodes, too. These cells can also collect in places other than your lymph nodes (extranodal sites).

Histiocytes are an important type of cell in your immune system. They fight germs that may make you sick. Still, having too many histiocytes — as with Rosai-Dorfman disease — can cause unpleasant symptoms or negatively impact a body system.

Rosai-Dorfman disease is also called sinus histiocytosis with massive lymphadenopathy. It’s a rare form of non-Langerhans cell histiocytosis.

What are the types of Rosai-Dorfman disease?

Rosai-Dorfman looks and behaves differently in different people. The cells may affect one group of lymph nodes or multiple groups. The histiocytes may collect in parts of your body other than your lymph nodes. RDD is classified based on these differences.

• Classic (nodal) Rosai-Dorfman disease: The most common type of RDD causes your lymph nodes to swell, especially the lymph nodes in your neck. Your symptoms depend on how many lymph nodes are impacted by excess histiocytes.
• Extranodal Rosai-Dorfman disease: RDD can affect tissue in your body other than your lymph nodes. The most common site is your skin. This type of RDD is called cutaneous RDD (CRDD). Other types of extranodal Rosai-Dorfman disease involve histiocyte overgrowths in your sinuses, eyes and eyelids, bone and central nervous system (brain and spinal cord). RDD can also impact other body systems, including your respiratory and gastrointestinal systems.

About 40% of people with RDD have excess histiocytes in extranodal sites in addition to their lymph nodes.

Who does Rosai-Dorfman disease affect?

Rosai-Dorfman disease mainly affects children, teens and young adults. Most diagnoses occur at about age 20, but there are recorded cases of RDD involving people in their 70s.

RDD affecting the lymph nodes occurs most frequently in people of African descent who are assigned male at birth. Cutaneous RDD is typically diagnosed in people of Asian descent who are assigned female at birth. CRDD mostly affects people in their 20s, 30s and 40s.

How common is Rosai-Dorfman disease?

Rosai-Dorfman disease is rare. About 1 in every 200,000 people get RDD. In the United States, about 100 new cases are diagnosed annually.

What are the symptoms of Rosai-Dorfman disease?

Your symptoms will depend on where the excess histiocytes accumulate in your body. You may experience mild symptoms or even no symptoms if the histiocytes only affect lymph nodes in your neck. You may experience more severe symptoms if the histiocytes prevent an organ from functioning correctly.

Classical (nodal) symptoms

Usually, histiocytes grow in the lymph nodes in your neck. As a result, the most common symptom is painless, swollen lumps on both sides of your neck. Swelling may appear in another place, depending on the affected lymph nodes.

Lymph node sites that may be swollen because of histiocyte overgrowth include:

• Your neck.
• Your groin.
• Your armpits.
• The center of your chest (mediastinum).

You may not notice symptoms other than the swelling, or you may notice symptoms, like:

• Fever.
• Pale skin.
• Fatigue.
• Night sweats.
• Runny nose.
• Unexplained weight loss.

Extranodal symptoms

Rosai-Dorfman disease that affects your skin (CRDD) may appear anywhere on your body. The histiocytes form growths that typically grow slowly. Signs and symptoms include skin growths that may appear:

• Flat or raised.
• Pus-filled or solid.
• Yellow, purple, red or brown.
• Spread out over your skin or isolated to one area.

Excess histiocytes impacting an organ or a body system can cause various symptoms. For example, RDD that affects your eyes may cause double vision, RDD affecting your central nervous system may cause seizures, RDD affecting your lungs may cause a persistent cough, etc.

What causes Rosai-Dorfman disease?

Scientists don’t know what causes Rosai-Dorfman disease. RDD affects people so differently that it may have multiple causes. For example, recent research suggests that CRDD likely has different causes than classic RDD.

Researchers have recently discovered gene mutations that sometimes appear in classic and extranodal RDD types other than CRDD. Gene mutations can cause a cell to grow out of control.

Many people with RDD also have other conditions. There may be a connection between these conditions and RDD. More research is needed to know for sure.

RDD is associated with:

• Viral infections (herpes, Epstein-Barr, cytomegalovirus, HIV).
• Cancer (Hodgkin and non-Hodgkin lymphoma, cutaneous clear-cell sarcoma).
• Autoimmune conditions (lupus, juvenile idiopathic arthritis, autoimmune hemolytic anemia).

How is Rosai-Dorfman disease diagnosed?

Your healthcare provider will perform a physical exam and ask about your symptoms. They’ll check for signs of RDD, like swollen lymph glands, skin growths or masses. They’ll also ask about your medical history to see if you have (or have previously had) any of the conditions associated with RDD.

Your provider may also perform any of the following.

• Imaging procedures: Your provider may take X-rays or perform an ultrasound, MRI, CT scan, PET scan, PET/CT or bone scan, depending on what type of tissue they suspect contains the excess histiocytes.
• Blood tests: Your provider may perform blood tests, including a complete blood panel (CBC) and a comprehensive metabolic panel, among others.
• Biopsy: Your provider may remove a sample of the affected tissue and test the cells for signs of RDD. A biopsy can help your healthcare provider rule out other conditions that may be causing the abnormal cell growth.

How is Rosai-Dorfman treated?

Sometimes, RDD goes away on its own (spontaneous remission), but the timing can be unpredictable. It may go away in a few months or a few years. Other times, the condition doesn’t improve on its own, or the cells grow back following remission. RDD may even worsen without treatment.

Your treatment will depend on how your RDD is impacting you.

• Observation: If you’re not experiencing symptoms that interfere with your quality of life, your provider may choose to monitor your condition.
• Surgery: Your provider may remove the growths. Surgery may be an option if you have CRDD or growths blocking your airway, impacting your spinal cord, etc.
• Radiation therapy: You may receive radiation therapy to destroy the cells if your provider can’t remove the histiocytes with surgery. During radiation treatment, a machine directs targeted beams of energy toward the cells, destroying them.
• Chemotherapy: You may receive chemotherapy drugs if you have serious disease or if other treatments, like surgery, haven’t improved your symptoms.
• Corticosteroids: Corticosteroids, like prednisone, can reduce lymph node swelling and provide symptom relief.
• Immunotherapy: Immunotherapy treatments help your immune system locate and destroy excess histiocytes more effectively.

What can I expect if I have Rosai-Dorfman disease?

Your prognosis depends on various factors, including how many lymph nodes are affected and where the excess histiocytes are in your body. Your response to treatment also plays a role. Often, RDD resolves on its own. In other instances, it may require treatment, or it could cause serious complications.

In general, the fewer lymph nodes affected, the better your prognosis. With extranodal RDD, outcomes are often better if RDD affects your skin, chest or upper respiratory tract. The prognosis is worse if the histiocytes collect in your lower respiratory tract, kidneys or liver.

What questions should I ask my doctor?

Questions you should ask include:

• What parts of my body are impacted by my RDD?
• Will I need imaging or blood tests?
• Will I need treatment, or will my RDD possibly go away on its own?
• How concerned should I be about my RDD?
• What treatments would you recommend?
• What side effects should I expect following treatment?
• How likely is it that my RDD will return after treatment?
• How often will I need check-ups to monitor my condition?

Is Rosai-Dorfman disease malignant?

No. Rosai-Dorfman is benign, which means it doesn’t spread to other parts of your body like malignancies (cancer) can. Still, the growths involved with RDD can impact organs and cause complications. Your healthcare provider is your best resource for understanding how your RDD affects your body and whether you should be concerned.

Who discovered Rosai-Dorfman disease?

In 1965, Pierre Paul Louis Lucien Destombes discovered symptoms of RDD in four patients. Later, in 1969, Juan Rosai and Ronald Dorfman studied additional patients with similar symptoms. The condition is most commonly known as Rosai-Dorfman disease. Less commonly, it’s called Rosai-Dorman-Destombes disease, as a nod to all three scientists who discovered the condition.

A note from Cleveland Clinic

Rosai-Dorfman disease (RDD) can be a challenging diagnosis because it’s so rare and affects people differently. There isn’t a single set of treatment guidelines for RDD. This is why it’s essential to communicate openly with your healthcare provider so you understand your diagnosis and are informed about your treatment options. You may have a mild case of RDD that goes away on its own, or you may need a combination of treatments. Ask your provider how your condition will shape your care plan and likely outcomes.