Rosai-Dorfman disease

Información en español Title

Other Names:

RDD; Sinus histiocytosis with massive lymphadenopathy; SHML; RDD; Sinus histiocytosis with massive lymphadenopathy; SHML; Rosaï-Dorfman disease See More

Categories:

Blood Diseases

Summary Summary

Rosai-Dorfman disease was first described by Rosai and Dorfman in 1969.^[1] It is a benign disease which is characterized by over-production and accumulation of a specific type of white blood cell (histiocyte) in the lymph nodes of the body, most often those of the neck (cervical).^[2] Other lymph node groups may also be involved and, in some cases, abnormal accumulation of histiocytes may occur in other areas of the body (extranodal).^[1]^[2] The cause of this condition remains unknown, although altered immune responses and infectious agents may play a role. SHML is a self-limited and seldom life-threatening disease which commonly does not require therapy.^[1]^[3]

Last updated: 7/22/2013

Symptoms Symptoms

The symptoms and physical findings associated with Rosai-Dorfman disease vary depending upon the specific areas of the body that are affected.^[2] Systemic symptoms, such as fever, weight loss, malaise, joint pain, and night sweats, may be present. Cervical lymph nodes are most characteristically involved, but other areas, including extranodal regions, can be affected.^[3] These areas include the skin, central nervous system, kidney, and digestive tract.^[2]

Last updated: 7/22/2013

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Anemia	Very frequent (present in 80%-99% of cases)
Dysgammaglobulinemia	Very frequent (present in 80%-99% of cases)
Fever	Very frequent (present in 80%-99% of cases)
Lymphadenopathy	Very frequent (present in 80%-99% of cases)
Erythema	Occasional (present in 5%-29% of cases)
Headache	Occasional (present in 5%-29% of cases)
Osteolysis	Occasional (present in 5%-29% of cases)
Papule	Occasional (present in 5%-29% of cases)
Paraplegia	Occasional (present in 5%-29% of cases)
Paresthesia	Occasional (present in 5%-29% of cases)
Seizures	Occasional (present in 5%-29% of cases)
Subcutaneous nodule	Occasional (present in 5%-29% of cases)

Last updated: 5/8/2017

Cause Cause

The exact cause of Rosai-Dorfman disease is unknown.^[1]^[2] Possible causes include altered immune responses and infections by agents such as varicella-zoster and other herpetic viruses; Epstein-Barr; cytomegalovirus; Brucella; and Klebsiella.^[1]

Last updated: 7/22/2013

Treatment Treatment

In many cases, the signs and symptoms of Rosai-Dorfman disease go away without any treatment (spontaneous remission) within months or a few years. When possible, the preferred course of management is continuous observation without treatment. Many individuals will not require therapy, but in some cases, various treatment options may become necessary. Treatment of the condition is then typically directed toward the specific symptoms that the affected individual has. Some individuals may need surgical removal of histiocytic lesions.^[4] In more serious cases, treatment options have included therapy with certain drugs including steroids (e.g., prednisone), alfa-interferon (a man-made copy of a protein that is normally made by the body in response to infection), chemotherapy and radiation therapy.^[3]^[4] These treatments have improved symptoms in some individuals, but in others they have not been effective. Other treatment is symptomatic and supportive.^[4]

Last updated: 8/20/2013

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Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Histiocytosis Association of America
332 North Broadway
Pitman, NJ 08071
Toll-free: 800-548-2758
Telephone: 856-589-6606
Fax: 856-589-6614
Website: http://www.histio.org/
Histiocytosis Association of Canada
Box 29095
Okanagan Mission RPO
Kelowna, B.C.
V1W 4A7
Canada
Telephone: 250-764-6104
E-mail: histio.canada@shaw.ca
Website: http://www.histiocytosis.ca

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
The Doctor's Doctor provides information about Rosai-Dorfman disease. Click on the link above to access this information.

In-Depth Information

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Rosai-Dorfman disease. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

What is the best treatment for Rosai-Dorfman? A biopsy was done about 2 years ago. The doctor is considering radiation therapy. I have a lesion deep in my pelvic bone. See answer
I recently had a lymph node excised. A biopsy indicated that I had Rosai-Dorfman disease. Is this serious? See answer

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