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Diseases

Genetic and Rare Diseases Information Center (GARD)

Darier disease


Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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Is genetic testing available for Darier disease?

Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Darier disease. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 12/15/2015

How is Darier disease diagnosed?

Darier disease is usually diagnosed by the appearance of the skin and the family history. It may be mistaken for other skin conditions. The diagnosis may require a skin biopsy.[1] Genetic testing to identify a mutation in the ATP2A2 gene can be used to confirm the diagnosis.[2]
Last updated: 12/15/2015

References
  1. Amy Stanway. Darier disease. DermNet NZ. October 18, 2015; http://www.dermnetnz.org/scaly/darier.html.
  2. Kwok PY, Fitzmaurice S. Darier disease. Medscape Reference. September 21, 2012; http://emedicine.medscape.com/article/1107340-overview. Accessed 3/6/2014.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Other Names for this Disease
  • Darier White Disease
  • Darier's disease
  • Keratosis follicularis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.