Hailey-Hailey disease

Información en español Title

Other Names:

Benign familial pemphigus; Benign chronic pemphigus; Familial benign pemphigus; Benign familial pemphigus; Benign chronic pemphigus; Familial benign pemphigus; BCPM See More

Categories:

Congenital and Genetic Diseases; Skin Diseases

Summary 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.^[1] Hailey-Hailey disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner.^[2] Treatment focuses on reducing symptoms and preventing flares, and may include topical medication, laser, and other procedures.^[1]^[3]^[4]

Last updated: 5/31/2017

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Acantholysis	Very frequent (present in 80%-99% of cases)
Erythema	Very frequent (present in 80%-99% of cases)
Hyperkeratosis	Very frequent (present in 80%-99% of cases)
Skin erosion	Very frequent (present in 80%-99% of cases)
Skin vesicle	Very frequent (present in 80%-99% of cases)
Autosomal dominant inheritance	-

Last updated: 7/1/2017

Inheritance Inheritance

Hailey-Hailey disease is inherited in an autosomal dominant manner.^[2] 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.

Last updated: 5/31/2017

Diagnosis 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.^[1] ATP2C1 is the only gene known to be associated with Hailey-Hailey disease.^[5] Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known.

Last updated: 5/31/2017

Testing Resources

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.

Treatment 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.^[3] 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.^[3]^[6]

Topical medications (such as mild corticosteroid creams and topical antibiotics) may improve symptoms in milder forms.^[3]^[6] Cool compresses and dressings may also help.^[3] More severe cases may require systemic antibiotics (especially erythromycin and tetracycline) and/or stronger corticosteroid creams.^[3] Topical tacrolimus ointment can be used to control the disease, even without the use of topical corticosteroids.^[4]

When the disease does not improve with these treatments and it is widespread, additional treatment options may include:^[4]^[7]

Corticosteroid injections,
Laser ablation therapy (such as CO2 ablation laser)
Radiofrequency (RF) surgery
Photodynamic therapy (PDT)
Electron beam radiotherapy
Botulinum toxin type A (BTX-A)
Dermabrasion
Topical cadexomer iodine powder
Oral dapsone
Oral methothrexate
Oral retinoids (isotretinoin or acitretin)
Injections of afamelanotide
Oral glycopyrrolate
Injections of alefacept

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.^[7]

Last updated: 5/31/2017

Do you have updated information on this condition? Let us know.

Research 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 studying or have studied Hailey-Hailey disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their 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: info@firstskinfoundation.org
Website: http://www.firstskinfoundation.org/
Hailey-Hailey Disease Society
515 Park St
Harrison, MI 48625
E-mail: info@haileyhailey.com
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

Do you know of an organization? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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. Online directories are provided by GeneTests, the American College of Medical Genetics, and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More 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.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
Genetics Home Reference contains information on Hailey-Hailey disease. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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 Hailey-Hailey disease. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

Is there a diet to help with my disease? See answer
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. See answer

Have a question? Contact a GARD Information Specialist.