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Disease Profile

Kimura 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Adult

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ICD-10

I89.8

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)

Eosinophilic granuloma of soft tissue; Eosinophilic hyperplastic lymphogranuloma; Eosinophilic lymphofolliculosis;

Summary

Kimura disease is a rare, noncancerous, chronic condition that causes the tissue under the skin of the head or neck to become swollen. Masses generally appear in a person's mid-20s and the disease mainly affects Asian men. Kimura disease is diagnosed by a surgical biopsy and the cause of the disease is unknown.[1][2][3] Treatment includes surgery, medication, or a combination of the two. However, the masses tend to develop again after treatment. Because this condition rarely causes health problems, people with Kimura disease have a good outcome.[1][2][3]

Symptoms

Masses on the head and neck usually appear in a person's late 20s to early 30s. [1][2] Most individuals with Kimura disease have no other symptoms. The masses are not painful, but may get bigger over time without treatment. About 20 to 60 percent of people with Kimura disease have kidney disease including nephrotic syndrome (increased protein in the urine).[1][3]

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
Eosinophilia
High blood eosinophil count
0001880
Follicular hyperplasia
0002729
Increased circulating IgE level
0003212
5%-29% of people have these symptoms
Abnormal salivary gland morphology
Abnormality of the salivary glands
0010286

Cause

The cause of Kimura disease is unknown, but it appears to be due to an abnormal immune response.[1][2][4]

Diagnosis

Kimura disease can be diagnosed by a surgical biopsy. Diagnosis is important because Kimura disease can look like other more serious conditions such as other immune system disorders, drug reactions, infections, or specific types of cancer.[2][3][4]

Treatment

There is no cure for Kimura disease, but surgery or medications can be used to remove or shrink the masses. Surgery followed by low dose radiation therapy appears to be the treatment resulting in the longest period of remission.[1][2][4][5] Radiation therapy alone has also been used to treat the masses seen in Kimura disease. Steroids (such as prednisone), taken by mouth or via an injection in the skin, can shrink the masses but the mass often reappears after treatment is stopped. Steroids can also be used to treat the kidney disease.[4] Other, less common, treatments include medications that decrease swelling and increase blood flow (such as oral pentoxifylline), medications that suppress the immune system (such as cyclosporine), radiotherapy, and a combination of several medications and steroids.[1][3][5]

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.

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 Kimura disease. Click on the link to view a sample search on this topic.

References

  1. Synder A.. Kimura Disease. Medscape Reference. Updated: Apr. 27, 2017; https://emedicine.medscape.com/article/1098777-overview.
  2. Sun QF, Xu DZ, Pan SH, Ding JG, Xue ZQ, Miao CS et al. Kimura disease: review of the literature. Intern Med J. 2008; 38:668-672. https://www.ncbi.nlm.nih.gov/pubmed/18808562.
  3. Bobinskas A, Chandu A, Nastri A. Kimura's disease: an uncommon cause of head and neck masses with potentially serious sequelae. Journal of Surg Case Reports. 2015; 10:1-3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4616046.
  4. Ye P, Ma DQ, Yu GY, Gao Y, Peng X. Comparison of the efficacy of different treatment modalities for Kimura's disease. Int J Oral Maxillofac Surg. 2017; 46(3):350-354. https://www.ncbi.nlm.nih.gov/pubmed/27614905.
  5. Carretero R, Brugera M, Rebollo-Aparicio N, Vazquez-Gomez O. Eosinophila and multiple lymphadenopathy: Kimura disease, a rare, but benign condition. BMJ Case Rep. Publ online: August 17, 2016; 1-3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5015188/pdf/bcr-2015-214211.pdf.

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