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Disease Profile

Rosai-Dorfman disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adolescent

ICD-10

D76.3

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

RDD; Sinus histiocytosis with massive lymphadenopathy; SHML;

Categories

Blood Diseases; Skin Diseases

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. Rosai-Dorfman disease is a self-limited and seldom life-threatening disease which commonly does not require therapy.[1][3][4]

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]

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.

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

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]

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.[5] In more serious cases, treatment options have included therapy with certain drugs including steroids (e.g., prednisone), alfainterferon (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]

Organizations

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 Providing General Support

    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.

      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.

        References

        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; https://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; https://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; https://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; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1122/viewAbstract. Accessed 8/27/2015.

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