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Rosai-Dorfman Disease - Symptoms, Diagnosis, and Treatment

Published on May 26, 2023   -  5 min read


The production of several histiocytes in the lymph nodes characterizes Rosai-Dorfman disease. Read this article to learn more about the disease.


Rosai-Dorfman disease is an uncommon benign disorder characterized by an overgrowth of histiocytes, a type of white blood cells, in the body's lymph nodes, specifically the lymph nodes in the neck, also known as the cervical lymph nodes. Swollen lymph glands mark the disease in the neck. The overgrowths can affect other parts of the skin and various other organs of the body. However, the symptoms, treatment options, and prognosis vary from person to person.

What Is Rosai-Dorfman Disease?

Rosai-Dorfman disease is a rare disease that involves an overproduction of histiocytes, a type of white blood cell that often leads to lymphadenopathy in the neck. However, these white blood cells can collect in extra-nodal sites too. Histiocytes play a pivotal role in immune reactions. They help to fight germs that can make the individual fall sick. The disease is also known as sinus histiocytosis with marked lymphadenopathy. It is a very rare form of non-Langerhans cell histiocytosis.

What Are the Types of Rosai-Dorfman Disease?

Rosai-Dorfman behaves differently with different people. The disease is classified into the following subtypes:

  • Nodal Rosai-Dorfman Disease: The classic type causes the lymph nodes of the neck to swell. The clinical symptoms depend on the number of lymph nodes affected by the excess histiocytes.

  • Extranodal Rosai-Dorfman Disease: This type can affect the other tissues in the body other than the lymph nodes. The most commonly affected site is the skin. It can also be known as cutaneous Rosai-Dorfman disease. Other types of extra-nodal Rosai-Dorfman disease include histiocyte overgrowths in the sinuses, eyes, eyelids, bone, brain, and spinal cord.

Who Is Affected by Rosai-Dorfman Disease?

Rosai-Dorfman's disease mainly affects young children, teenagers, and young adults. Usually, the disease is diagnosed at the age of 20 years, but it can be present in elderly people too. The classic form of the disease occurs most frequently in male Africans. The cutaneous form of the disease is typically diagnosed in Asian females.

What Is the Frequency of Rosai-Dorfman Disease?

Rosai-Dorfman disease is an uncommon disease. In the United States, approximately 100 new cases are diagnosed every year.

What Are the Symptoms of Rosai-Dorfman Disease?

The symptoms depend on the presence of excessive histiocyte accumulation in the body.

Classical Symptoms:

Usually, histiocytes accumulate in the lymph nodes of the neck. The most common symptom is swollen lumps on either or both sides of the neck, which are usually painless.

Lymph node sites that are commonly swollen because of histiocyte overproduction include:

  • Neck.

  • Groin.

  • Armpits.

  • Center of the chest.

Other Symptoms:

  • Fever.

  • Pallor skin.

  • Tiredness.

  • Sweats at night.

  • Runny nose.

  • Weight loss.

Extranodal Symptoms:

Rosai-Dorfman disease affects the skin anywhere on the body. The symptoms include skin overgrowths that may appear:

  • Flat or raised.

  • Pustules or solid.

  • Yellow, purple, or reddish-brown in color.

  • Isolated or spread all over the body.

What Is the Etiology of Rosai-Dorfman Disease?

The etiology of the disease is unknown. Genetic mutations have been found to play a role in the etiopathogenesis of the disease. Genetic mutations can cause uncontrolled cellular growth.

The disease is also found to be associated with the following:

  • Certain viral infections (herpes, Epstein-Barr, cytomegalovirus, human immunodeficiency virus).

  • Malignant tumors (Hodgkin and Non-Hodgkin lymphoma, clear-cell sarcoma of the skin).

  • Autoimmune disorders (lupus, juvenile arthritis).

How Is Rosai-Dorfman Disease Diagnosed?

  • Physical Examination: The healthcare provider will perform a thorough physical examination and look for the symptoms. He will check for swollen lymph glands, skin overgrowths, or masses. The doctor will also ask for a previous medical history for a better diagnosis.

  • Imaging Techniques: The healthcare provider may ask you to perform X-rays, an ultrasound, magnetic resonance imaging, computed tomography scan, or bone scan, depending on the tissue that contains the excess histiocytes. The disease usually mimics breast cancer in imaging techniques as well as clinically.

  • Blood Tests: The healthcare provider may ask to conduct blood tests, including a complete blood count and an extensive metabolic panel.

  • Biopsy: The healthcare provider may require a tissue sample to test for the affected cells for the signs of Rosai-Dorfman’s disease. A tissue biopsy can help the healthcare provider to exclude other conditions that may lead to abnormal cell growth.

What Is the Treatment of Rosai-Dorfman’s Disease?

Sometimes, the disease undergoes spontaneous remission, but the timing cannot be predicted. It may disappear in a few months or within a few years. Other times, the disease may worsen without effective treatment.

The treatment will depend on the following:

  • Precise Observation: If the affected individual is not experiencing symptoms that can interfere with the quality of life, the doctor may choose to observe the situation closely.

  • Surgery: The healthcare provider may surgically remove the skin overgrowths. Surgery may be an option if the disease affects the spinal cord, and so on.

  • Radiation Therapy: Radiation therapy may destroy the cells if the healthcare provider cannot surgically remove the histiocytes. During radiation therapy, a targeted beam of energy is directed toward the cells with the help of a machine, thereby destroying them.

  • Chemotherapy: It is preferred if the disease is serious or other treatment methods do not improve the condition.

  • Corticosteroids: Steroids can help to reduce lymph node swelling and provide symptomatic relief. They are used as first-line therapy pharmacological drugs.

  • Immunotherapy: This treatment helps the immune system target and destroy excess histiocytes more effectively.


Rosai-Dorfman’s disease is a benign disorder characterized by an overgrowth of histiocytes. There is overproduction and deposition of white blood cells (mainly histiocytes), specifically in the cervical lymph nodes of an individual’s body. However, the disease is a rare entity with a benign course. The prognosis of the disease depends on several factors, including the number of lymph nodes affected and the presence of excess histiocytes in the body. The body’s response to treatment also plays an important role. Often, the disease spontaneously resolves on its own. Sometimes, treatment may be required. If left untreated, the disease can worsen. The prognosis of the disease is worse if the histiocytes deposit in the respiratory tract, kidneys, liver, or brain.

Last reviewed at:
26 May 2023  -  5 min read




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