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Disease Profile

Hailey-Hailey disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

Q82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Benign familial pemphigus; Benign chronic pemphigus; Familial benign pemphigus;

Categories

Congenital and Genetic Diseases; Skin Diseases

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]

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. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Acantholysis
0100792
Erythema
0010783
Hyperkeratosis
0000962
Skin erosion
0200041
Skin vesicle
0200037
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006

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.

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

    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]

    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]

    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

      Social Networking Websites

        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.

            References

            1. Hailey-Hailey disease. DermNet NZ. 2016; https://www.dermnetnz.org/systemic/familial-pemphigus.html.
            2. Benign chronic pemphigus. Genetics Home Reference. 2016; https://ghr.nlm.nih.gov/condition/benign-chronic-pemphigus.
            3. Hailey-Hailey disease. NORD. 2015; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1223/viewAbstract.
            4. Helm TN. Familial Benign Pemphigus (Hailey-Hailey Disease). Medscape Reference. 2017; https://emedicine.medscape.com/article/1063224-overview.
            5. Familial benign pemphigus. Genetic Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0085106/.
            6. Familial benign chronic pemphigus. Orphanet. June, 2006; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2841.
            7. Farahnik B, Blattner CM, Mortazie MB et al. Interventional treatments for Hailey-Hailey disease. J Am Acad Dermatol. March, 2017; 76(3):551-558.e3. https://www.ncbi.nlm.nih.gov/pubmed/27745906.

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