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Rosai-Dorfman disease

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Other Names:
RDD; Sinus histiocytosis with massive lymphadenopathy; SHML; RDD; Sinus histiocytosis with massive lymphadenopathy; SHML; Rosaï-Dorfman disease See More
Categories:
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. Rosai-Dorfman disease is a self-limited and seldom life-threatening disease which commonly does not require therapy.[1][3][4]
 
Last updated: 7/22/2013
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Dysgammaglobulinemia 0002961
Fever 0001945
Lymphadenopathy
Swollen lymph nodes
0002716
5%-29% of people have these symptoms
Erythema 0010783
Headache
Headaches
0002315
Osteolysis
Breakdown of bone
0002797
Papule 0200034
Paraplegia
Leg paralysis
0010550
Paresthesia
Pins and needles feeling
Tingling
[ more ] 		0003401
Seizure 0001250
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin
[ more ] 		0001482
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Last updated: 7/1/2020
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
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.[5] 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][5] These treatments have improved symptoms in some individuals, but in others they have not been effective. Other treatment is symptomatic and supportive.[5]
Last updated: 8/20/2013

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Rosai-Dorfman disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Rosai-Dorfman disease:
    International Rare Histiocytic Disorders Registry (IRHDR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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

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.

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.

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.

  1. Gomes Pinto DC, de Aguiar Vidigal T, de Castro B, dos Dantos BH, de Sousa NJA. Rosai-Dorfman disease in the differential diagnosis of cervical lymphadenopathy. Rev. Bras. Otorrinolaringol. 2008; http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0034-72992008000400025&lng=en&nrm=iso&tlng=en. Accessed 7/22/2013.
  2. Rosai J. Rosai-Dorfman Disease. National Organization for Rare Disorders (NORD). 2011; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1122/viewAbstract. Accessed 7/22/2013.
  3. Tebbi CK, Arceci RJ, Loew TW. Histiocytosis. Medscape Reference. April 2012; http://emedicine.medscape.com/article/958026-overview. Accessed 7/22/2013.
  4. Mahajan S, Nakajima R, Yabe M, et al. Rosai-Dorfman Disease-Utility of 18F-FDG PET/CT for Initial Evaluation and Follow-up. Clin Nucl Med. 2020; 45(6):e260-e266. https://pubmed.ncbi.nlm.nih.gov/32349088.
  5. Rosai-Dorfman Disease. NORD. 2014; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1122/viewAbstract. Accessed 8/27/2015.