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Genetic and Rare Diseases Information Center (GARD)

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Hailey-Hailey disease


Other Names for this Disease
  • BCPM
  • Benign chronic pemphigus
  • Benign familial pemphigus
  • Familial benign pemphigus
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Your Question

Can prenatal genetic screening be done for the ATP2C1 responsible for Hailey-Hailey disease? If so, how who you advise a couple to move forward if they were wanting to conceive a child free of this genetic disorder? The mother is the gene carrier.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Hailey-Hailey disease?

Hailey-Hailey disease is an inherited condition characterized by recurrent blisters seen primarily on the neck, groin, and axillae (armpit). Precipitating factors include heat, sweating, skin infection, and ultraviolet radiation. The disorder often becomes apparent after puberty, usually by the third or fourth decade, but symptoms can develop at any age.[1][2] Hailey-Hailey disease occurs due to a mutation in a specific gene (ATP2C1) that creates a protein that is essential for skin health.[1][3] There is no cure for this condition. Treatment is aimed at reducing symptoms and preventing flare-ups.[4] This condition is inherited in an autosomal dominant fashion.[3]
Last updated: 7/25/2011

How is Hailey-Hailey disease inherited?

Hailey-Hailey disease is inherited in an autosomal dominant fashion, which means that an affected person usually inherits the abnormal gene that causes the condition from one parent. A person that has an autosomal dominant condition has a 50% chance of passing it on to his or her children.[3]
Last updated: 7/25/2011

Is prenatal testing available for Hailey Hailey disease?

Yes. But in most cases, the gene mutation must first be identified in an affected parent before genetic testing can be performed on a fetus. GeneTests lists the names of laboratories that are performing genetic testing for Hailey Hailey disease. To view the contact information for the clinical laboratory conducting testing, click here

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.  Below, we provide a list of online resources that can assist you in locating a genetics professional near you.
Last updated: 7/25/2011

How can someone with Hailey Hailey disease avoid having a child with this condition?

Today there are a number of genetic tests that can be used to inform a couple about the possible outcomes of a current or future pregnancy. Examples of two such tests are prenatal diagnosis and preimplantation genetic diagnosis (PGD). Prenatal diagnosis can be used to diagnose a condition in a developing fetus. Today, doctors are able to diagnose many more birth defects than they are able to treat before birth. If a fetus has a condition for which prenatal treatment is not possible, prenatal diagnosis may help parents prepare emotionally for the birth and to plan the delivery with their health care providers. Parents can also use this information to make decisions regarding whether or not to continue the pregnancy.

PGD represents an alternative to prenatal diagnosis. It is used following in vitro fertilization to diagnose a genetic disease or condition in embryos. Only embryos that do not carry the disease-causing mutation are implanted in the mother's womb. PGD allows testing to occur before a pregnancy begins.

In many cases, the disease-causing mutation must be identified in an affected relative before PGD or prenatal diagnosis can be performed.

You can learn more about these and other tests by visiting the links below to the view information on this topic developed by the Centre for Genetic Education and by the Genetics and Public Policy Center:
http://www.genetics.com.au/pntbooklet.pdf
http://www.dnapolicy.org/policy.issue.php?action=detail&issuebrief_id=7

Couples considering these options should talk with their healthcare provider and a genetic professional. It is important that couples are fully informed of the risks and benefits of each testing option and also have an opportunity to explore their feelings and beliefs regarding the use of these technologies.
Last updated: 7/25/2011

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 10/18/2013

References