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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hailey-Hailey disease


Other Names for this Disease
  • Benign familial pemphigus
  • Benign chronic pemphigus
  • Familial benign pemphigus
  • BCPM
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 Hailey-Hailey disease?

Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.[1]Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known. 
Last updated: 12/30/2015

How is Hailey-Hailey disease diagnosed? 

Diagnosis of Hailey-Hailey disease is usually made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be required. Genetic testing is available to confirm the diagnosis of Hailey-Hailey disease, but is not required.[2]
Last updated: 12/30/2015

References
  1. Familial benign pemphigus. Genetic Testing Registry. http://www.ncbi.nlm.nih.gov/gtr/conditions/C0085106/. Accessed 12/30/2015.
  2. Hailey-Hailey disease. DermNet NZ. August 29, 2015; http://www.dermnetnz.org/systemic/familial-pemphigus.html. Accessed 12/30/2015.


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
  • Benign familial pemphigus
  • Benign chronic pemphigus
  • Familial benign pemphigus
  • BCPM
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.