Hailey-Hailey disease (familial benign pemphigus) facts*

*Hailey-Hailey disease (familial benign pemphigus) facts medical author:

  • Hailey-Hailey disease is also known as familial benign pemphigus.
  • It is a genetic (inherited) disease of the skin.
  • Signs and symptoms of Hailey-Hailey disease include a painful, blistering skin rash that typically occurs in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks.
  • The cause of Hailey-Hailey disease is a mutation in the gene known as ATP2C1.
  • Hailey-Hailey disease is inherited in an autosomal dominant manner, meaning that only one parent needs to have a copy of the defective gene to affect the offspring.
  • Sunburn, sweating, and friction tend to make the symptoms and signs worse.
  • There is no specific treatment available; treatment aims to control the signs and symptoms.

Summary

Hailey-Hailey disease is a genetic skin disease that causes blistering. Signs and symptoms include a painful rash and blistering in skin folds, such as the armpits, groin, neck, under the breasts, and between the buttocks. Secondary bacterial infections are not uncommon. Symptoms are often worse in summer months due to heat, sweating, and friction. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner. Treatment focuses on reducing symptoms and preventing flares, and may include topical medication, laser, and other procedures.

Symptoms

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.

Medical TermsOther Names
80%-99% of people have these symptoms
Acantholysis
Erythema
Hyperkeratosis
Skin erosion
Skin vesicleBlister

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Sign of Hailey-Hailey Disease

Blisters

Blisters are small raised areas that are filled with fluid and located in the superficial layer of the skin. They look like bubbles on the surface of the skin. Although they are often caused by irritation or friction (such as with a poorly fitting shoe), blisters can also represent disease processes. Blisters can accompany some types of skin rashes and inflammatory conditions, including certain autoimmune diseases. Depending upon the cause of the blisters, blisters may occur singly or in groups. In contrast to abscesses and boils, which are collections of inflammatory fluid found deep in the tissues, blisters are found in the most superficial layer of skin.

Inheritance

Hailey-Hailey disease is inherited in an autosomal dominant manner. This means that having only one mutated copy of the disease-causing gene in each cell is enough to cause features of the disease. Some people with Hailey-Hailey disease inherit the disease from a parent with the disease. Other cases are due to a new mutation in the gene and occur in people with no family history of the disease. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene.

Diagnosis

The diagnosis of Hailey-Hailey disease usually is made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be needed. Genetic testing is available to confirm the diagnosis, but is not required. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known.

Treatment

There is no specific treatment for Hailey-Hailey disease and management generally focuses on the specific symptoms and severity in each person.

People with Hailey-Hailey disease are encouraged to avoid "triggers" such as sunburn, sweating, and friction, and to keep the affected areas dry. Sunscreen, loose clothing, moisturizing creams, and avoiding excessive heat may help prevent outbreaks. Trying to prevent bacterial, viral, and fungal infections in the affected areas is also important, and drugs used to treat or prevent these infections are commonly used.

Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms. Cool compresses and dressings may also help. More severe cases may require systemic antibiotics (especially erythromycin and tetracycline) and/or stronger corticosteroid creams. Topical tacrolimus ointment can be used to control the disease, even without the use of topical corticosteroids.

When the disease does not improve with these treatments and it is widespread, additional treatment options may include:

Botulinum toxin, CO2 ablation laser, and dermabrasion are the most studied and have shown to be effective treatments. Some reports show that low-dose botulinum toxin type A injections should be given first in hard-to-treat cases because it is well-tolerated, effective, and has few or mild negative side effects.

Find a Specialist If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can't find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.

Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Hailey-Hailey disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

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 Supporting This Disease

Foundation for Ichthyosis and Related Skin Types (FIRST)
2616 North Broad Street
Colmar, PA 18915
Toll-free: 800-545-3286
Telephone: 215-997-9400
E-mail: [email protected]
Website: http://www.firstskinfoundation.org/

Hailey-Hailey Disease Society
515 Park St
Harrison, MI 48625
E-mail: http://haileyhailey.com/contact-us
Website: http://haileyhailey.com

Social Networking Websites

Visit the following Facebook groups or pages related to Hailey-Hailey disease:

Hailey Hailey Disease New Approaches

Hailey-Hailey Disease Worldwide Support Network

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Medically Reviewed on 5/17/2019
References
SOURCE:

United States. National Institutes of Health. Genetic and Rare Diseases Information Center. "Hailey-Hailey Disease." May 31, 2017. <https://rarediseases.info.nih.gov/diseases/6559/hailey-hailey-disease>.
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