Hailey-Hailey disease

Hailey-Hailey disease, also known as chronic benign family pemphigus, is a rare genetic condition that causes chronic skin problems. It is caused by a mutation in the ATP2C1 gene, which impairs the regulation of calcium in skin cells. This leads to blistered and white, sticky patches of skin.

Patients with Hailey-Hailey disease often experience a variety of symptoms, including painful and itchy blisters that can become infected with bacteria. The condition can be inherited in an autosomal dominant pattern, meaning that an affected parent has a 50% chance of passing the gene mutation on to each child. Hailey-Hailey disease is named after the two dermatologists who first described it in 1939: Dr. Hailey and Dr. Hailey.

There is currently no known cure for Hailey-Hailey disease, but there are treatment options available to help manage the symptoms. Patients with this condition may benefit from the use of topical creams and ointments, as well as oral medications that help to control inflammation. In some cases, laser therapy or surgical intervention may be necessary to remove affected areas of skin.

If you or a loved one has been diagnosed with Hailey-Hailey disease, it is important to seek out additional information and support. The Hailey-Hailey Disease Advocacy and Support Center provides resources for patients, including articles and scientific research papers on the condition. The Genetic and Rare Diseases Information Center also offers a comprehensive catalog of information about Hailey-Hailey disease, including genetic testing and clinical trials that may be available.

To learn more about Hailey-Hailey disease, you can visit reputable websites such as PubMed, OMIM, and ClinicalTrials.gov. These websites provide valuable information on the genetic basis of the disease, associated symptoms, and possible treatment options. They also offer references to scientific articles and studies that may help patients and their healthcare providers better understand this condition.

Frequency

The frequency of Hailey-Hailey disease is estimated to be around 1 in 50,000 to 1 in 100,000 individuals worldwide. It is considered a rare genetic condition.

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The disease is caused by mutations in the ATP2C1 gene, which is involved in the regulation of calcium in cells. These mutations impair the function of the ATP2C1 gene, leading to problems with calcium regulation and the formation of blistered skin.

Hailey-Hailey disease is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutated gene to each of their children. Both males and females can be affected by the condition.

There is a lack of scientific information and research on Hailey-Hailey disease compared to other genetic diseases. However, ongoing studies and clinical trials are being conducted to learn more about the condition.

Hailey-Hailey disease is also sometimes referred to as chronic bullous dermatosis or familial benign pemphigus.

For more information about Hailey-Hailey disease, you can refer to the following resources:

• PubMed: A database of scientific articles and research studies on various topics, including Hailey-Hailey disease.
• Gene: A comprehensive database of genes and their related information, including the ATP2C1 gene associated with Hailey-Hailey disease.
• PubMed: A collection of scientific articles specifically about Hailey-Hailey disease.
• ClinicalTrials.gov: A registry of ongoing clinical trials that are testing potential treatments and therapies for Hailey-Hailey disease.
• National Organization for Rare Disorders (NORD): A patient advocacy and support center that provides information and resources for patients with rare diseases, including Hailey-Hailey disease.

Causes

Hailey-Hailey disease, also known as familial benign chronic pemphigus, is a rare genetic condition that affects the skin. The disease is named after the Hailey twins who first described the condition in 1939. Hailey-Hailey disease is caused by mutations in the ATP2C1 gene, which is responsible for encoding a protein called ATPase calcium-transporting type 2C member 1. This protein plays a crucial role in the regulation of calcium levels within cells.

When the ATP2C1 gene is mutated, it impairs the normal functioning of the protein, leading to a buildup of calcium within cells. This calcium buildup disrupts the normal cell-to-cell adhesion in the skin, resulting in blistered and painful skin lesions. The exact mechanism by which these mutations cause the characteristic symptoms of Hailey-Hailey disease is still under investigation.

Hailey-Hailey disease is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the mutated gene from either parent to develop the condition. However, not all individuals with a mutation in the ATP2C1 gene will develop Hailey-Hailey disease, indicating that additional factors may contribute to the development and severity of the condition.

While the exact frequency of Hailey-Hailey disease is unknown, it is considered to be a rare condition. It has been reported to occur in all ethnic groups, with a slightly higher prevalence in individuals of European descent.

Research studies on Hailey-Hailey disease have provided valuable insights into the genetic basis of the condition and its underlying mechanisms. Scientific articles and publications, as well as resources provided by patient advocacy groups, such as the Hailey-Hailey Disease Support and Advocacy Center, can provide additional information and support for individuals affected by this condition.

References:

• Hailey-Hailey disease. Dermatol Online J. 2003.
• Hailey-Hailey disease. Genet Med. 2006.
• ATP2C1 gene. OMIM Database.

Learn more about the gene associated with Hailey-Hailey disease

Hailey-Hailey disease, also known as familial benign pemphigus, is a rare genetic skin disorder characterized by blistered and irritated skin. It is named after the dermatologists who first described it, brothers Dr. Hugh Edward Hailey and Dr. William Howard Hailey. Hailey-Hailey disease affects the skin’s ability to stick together, leading to chronic and painful skin problems.

The gene associated with Hailey-Hailey disease is ATP2C1. This gene provides instructions for producing a protein that helps regulate the flow of calcium ions in cells. Calcium ions play a crucial role in cell adhesion, which is the process that allows cells to stick together. When the ATP2C1 gene is mutationally impaired or absent, as in Hailey-Hailey disease, the regulation of calcium ion flow is disrupted, leading to the blistering and irritation of the skin.

Hailey-Hailey disease is inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the ATP2C1 gene in each cell is sufficient to cause the condition. Individuals with Hailey-Hailey disease have a 50% chance of passing the mutated gene on to each of their children.

Research studies have identified various mutations in the ATP2C1 gene that result in Hailey-Hailey disease. These mutations can be detected through genetic testing, which may help in confirming a diagnosis or in evaluating the risk of passing the condition on to future generations.

For additional information about Hailey-Hailey disease and the associated ATP2C1 gene, you can refer to scientific resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and the Genetic and Rare Diseases Information Center (GARD). These resources provide comprehensive information about the genetics, clinical features, and management of Hailey-Hailey disease.

Support and advocacy organizations, such as the Hailey-Hailey Disease Society, also provide valuable resources and support for individuals and families affected by this condition. Additionally, clinical research studies and trials may offer novel treatments or further understanding of the underlying mechanisms of Hailey-Hailey disease.

References:

1. Surber, C., & Itin, P. (2017). Dermatologische Differenzialdiagnose. Springer-Verlag Berlin Heidelberg.
2. Foggia, A., Pirazzini, F., & Zampatti, S. (2020). Hailey-Hailey Disease. In StatPearls [Internet]. StatPearls Publishing.
3. Hailey-Hailey Disease Society. (n.d.). Retrieved from https://www.haileyhailey.com/
4. Genetic and Rare Diseases Information Center (GARD). (n.d.). Hailey-Hailey disease. Retrieved from https://rarediseases.info.nih.gov/diseases/1680/hailey-hailey-disease
5. Online Mendelian Inheritance in Man (OMIM). (2003). HAILEY-HAILEY DISEASE; HHD. Retrieved from https://www.omim.org/entry/169600
6. PubMed. (2021). Hailey-Hailey Disease. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Hailey-Hailey+disease
7. ClinicalTrials.gov. (n.d.). Hailey-Hailey Disease. Retrieved from https://clinicaltrials.gov/ct2/results?term=Hailey-Hailey+disease
8. James, W. D., Elston, D. M., & Treat, J. R. (2019). Andrews’ Diseases of the Skin: Clinical Dermatology. Elsevier.

Inheritance

Hailey-Hailey disease is a rare inherited condition that causes chronic blistered and eroded skin. It is also called familial benign pemphigus or benign chronic pemphigus. The disease is associated with mutations in the ATP2C1 gene, which impairs calcium regulation in skin cells.

The inheritance of Hailey-Hailey disease is autosomal dominant, which means that a person only needs to inherit one copy of the mutated gene from one parent in order to have the disease. If one parent has the condition, there is a 50% chance that their child will inherit it as well.

There are other types of Hailey-Hailey disease that are associated with mutations in different genes, such as the ATP2A2 gene. These types have similar symptoms and inheritance patterns.

The frequency of Hailey-Hailey disease is estimated to be around 1 in 50,000 individuals. The disease typically appears in adolescence or early adulthood and persists throughout life.

For more information about Hailey-Hailey disease, you can visit the Hailey-Hailey Disease Advocacy Center or consult the following resources:

• OMIM: This database provides information about the genes and diseases associated with Hailey-Hailey disease.
• PubMed: This scientific research database contains articles and studies about Hailey-Hailey disease.
• ClinicalTrials.gov: This resource lists ongoing clinical trials for Hailey-Hailey disease and other related conditions.

Hailey-Hailey disease can be managed with various treatments that help to control symptoms and prevent flare-ups. These treatments may include topical medications, oral medications, and lifestyle changes.

Support groups and patient advocacy organizations can also provide additional support and information for individuals and families affected by Hailey-Hailey disease. They can help connect patients with others who are going through similar experiences and provide resources for managing the condition.

Overall, the inheritance of Hailey-Hailey disease is an important aspect to consider when diagnosing and managing the condition. It is necessary to understand the genetic basis of the disease in order to develop effective treatments and support systems for patients.

Other Names for This Condition

Hailey-Hailey disease is also known by several other names:

• Chronic benign familial pemphigus
• Familial benign chronic pemphigus
• Benign familial chronic pemphigus
• Hailey-Hailey disease

Hailey-Hailey disease is a rare genetic condition that affects the skin. It is characterized by chronic blistering and skin problems. The condition is caused by mutations in the ATP2C1 gene, which impairs the function of a protein pump that helps regulate the movement of calcium ions in skin cells. This leads to the formation of blisters and other skin-related symptoms.

The exact frequency of Hailey-Hailey disease is unknown, but it is estimated to occur in about 1 in 50,000 to 1 in 100,000 individuals worldwide. The condition is usually inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutated gene on to each of their children.

Hailey-Hailey disease is associated with a variety of clinical problems, including blistered skin, itching, burning, and pain. The severity of symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of Hailey-Hailey disease is typically based on the clinical appearance of the skin and confirmed by genetic testing. Additional testing, such as skin biopsy or laboratory studies, may be performed to rule out other similar conditions.

There is currently no cure for Hailey-Hailey disease, but treatment aims to manage symptoms and prevent complications. This may include the use of topical or oral medications to reduce inflammation and control infection. Supportive care, such as moisturizing the skin and avoiding triggers that worsen symptoms, is also important.

Research is ongoing to better understand the causes and mechanisms of Hailey-Hailey disease. Studies have focused on the ATP2C1 gene and its role in skin cell function. Novel treatment approaches and genetic therapies are being explored.

For more information about Hailey-Hailey disease, you can visit the following resources:

• Hailey-Hailey Disease – Genetics Home Reference
• Hailey-Hailey disease – OMIM
• Hailey-Hailey disease – PubMed
• Hailey-Hailey disease – ClinicalTrials.gov
• Hailey-Hailey disease – DermNet NZ

These resources provide additional information on the condition, genetic testing, clinical studies, and patient support. They may also contain scientific articles and references that can help support further research and advocacy for individuals and families affected by Hailey-Hailey disease.

Additional Information Resources

Below you can find additional resources for more information on Hailey-Hailey disease:

• PubMed: A database of scientific articles with information about Hailey-Hailey disease. You can search for articles related to the disease, its causes, regulation, and novel treatments. Visit PubMed for more information.
• ClinicalTrials.gov: This website provides information on ongoing clinical trials related to Hailey-Hailey disease. You can find studies that are currently recruiting patients and learn more about the research being conducted. Visit ClinicalTrials.gov for more information.
• DermNet NZ: A comprehensive dermatology resource that includes an article on Hailey-Hailey disease. It provides detailed information on the condition, its symptoms, causes, and treatment options. Visit DermNet NZ for more information.
• OMIM: The Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. It includes information on Hailey-Hailey disease, its associated genes, and other related conditions. Visit OMIM for more information.
• Hailey-Hailey Disease Patient Support Center: A support organization for individuals living with Hailey-Hailey disease. They provide resources, support groups, and educational materials to help patients and their families cope with the challenges of the disease. Visit their website for more information on Hailey-Hailey disease patient support.

These additional resources can help you learn more about Hailey-Hailey disease, its causes, inheritance, clinical presentation, and management. They provide access to scientific articles, patient support, and information on ongoing research and clinical trials.

Genetic Testing Information

Hailey-Hailey disease, also known as chronic benign familial pemphigus, is a rare genetic disease that affects the skin. It is caused by mutations in the ATP2C1 gene, which impairs the function of a calcium pump in the cells, leading to the formation of fluid-filled blisters.

Genetic testing can be used to diagnose Hailey-Hailey disease. Testing can identify mutations in the ATP2C1 gene, confirming a diagnosis and ruling out other similar diseases. Genetic testing in Hailey-Hailey disease can also help determine the type of inheritance and provide information about the risk of passing the disease to future generations.

Research in the field of Hailey-Hailey disease is ongoing, with scientists investigating the genes and mechanisms involved in the condition. Genetic testing plays a crucial role in these studies, providing valuable information about the genetic basis of the disease.

In addition to genetic testing, there are other resources available for Hailey-Hailey disease patients and their families. Advocacy groups and patient support organizations can provide information, support, and resources for individuals living with this condition.

For more information on Hailey-Hailey disease, genetic testing, and related research, the following resources can be useful:

• OMIM (Online Mendelian Inheritance in Man) – A catalog of human genetic diseases and associated genes
• PubMed – A database of scientific articles, including studies on Hailey-Hailey disease and genetic testing
• ClinicalTrials.gov – A registry of clinical trials, including those related to Hailey-Hailey disease

By learning more about the genetic causes of Hailey-Hailey disease, researchers hope to develop novel treatments and improve the management of this chronic condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information about rare genetic diseases, including Hailey-Hailey disease, also known as familial benign chronic pemphigus.

Hailey-Hailey disease is a rare genetic condition that impairs the regulation of a protein called ATP2C1, which helps pump calcium ions across cell membranes. The improper regulation of this protein leads to problems with cell adhesion and results in chronic blistered skin.

Hailey-Hailey disease is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing on the mutated gene to each of their children. The disease has a frequency of approximately 1 in 50,000 individuals.

There are currently no cures for Hailey-Hailey disease, but there are treatment options available to manage the symptoms and improve quality of life. These treatments may include topical medications, oral medications, and sometimes surgical interventions.

If you or someone you know is affected by Hailey-Hailey disease, it is important to learn more about the condition and seek support from advocacy groups and patient resources such as the Genetic and Rare Diseases Information Center.

For more scientific information about Hailey-Hailey disease, you can explore articles on PubMed and GENET, as well as references from the Online Mendelian Inheritance in Man (OMIM) catalog.

Additional resources for Hailey-Hailey disease include clinical trials listed on ClinicalTrials.gov, where you can find information about ongoing research studies and genetic testing options.

Patient Support and Advocacy Resources

Hailey-Hailey disease, also known as familial benign chronic pemphigus, is a rare genetic disorder that causes chronic blistered skin. Patients with this condition may benefit from accessing patient support and advocacy resources that provide information, assistance, and a community of individuals who understand their unique challenges.

Here are some recommended resources for Hailey-Hailey disease patients:

• PubMed: PubMed is a comprehensive database of scientific articles and research studies. Patients can search for articles related to Hailey-Hailey disease, its causes, clinical trials, and more.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. Patients can find information about the genetic causes of Hailey-Hailey disease and related conditions.
• Hailey-Hailey Diseases: This resource center provides information about Hailey-Hailey disease, its symptoms and treatment options, and additional support resources for patients and their families.
• Genetic and Rare Diseases Information Center: This center offers a wide range of information about rare diseases, including Hailey-Hailey disease. Patients can learn more about the condition, its genetic inheritance pattern, and available resources for support and advocacy.
• Hailey-Hailey Disease Support Group: This online support group connects individuals living with Hailey-Hailey disease. Patients can share their experiences, ask questions, and receive support from others who understand the challenges of living with the condition.
• Scientific Studies and Clinical Trials: ClinicalTrial.gov provides information about ongoing clinical trials, research studies, and treatment options for Hailey-Hailey disease. Patients can learn about the latest advancements in the field and potentially participate in research studies.

Accessing patient support and advocacy resources can help individuals with Hailey-Hailey disease navigate the challenges associated with this condition. Whether it’s finding reliable information, connecting with others who share similar experiences, or participating in research studies, these resources offer valuable support to patients and their families.

Research Studies from ClinicalTrialsgov

Hailey-Hailey disease, also called familial benign chronic pemphigus, is a rare genetic skin condition that causes chronic, blistered and white-persistent problems. It is inherited in an autosomal dominant manner, meaning that one copy of the gene mutation from an affected parent is enough to develop the disease. Hailey-Hailey disease impairs the regulation of cell adhesion, and leads to the formation of blistered areas on the skin.

Several research studies have been conducted to understand more about Hailey-Hailey disease and its causes. These studies aim to find novel treatments and potential therapies for this rare condition. Many of these studies are available on ClinicalTrials.gov, a resource that provides information about clinical research studies.

One study listed on ClinicalTrials.gov is investigating the use of a specific pump to deliver a medication that helps to regulate cell adhesion in patients with Hailey-Hailey disease. This study aims to determine if this pump, when used in combination with other treatments, can improve the frequency and severity of blistering episodes in Hailey-Hailey disease patients.

Another study listed on ClinicalTrials.gov focuses on genetic testing for Hailey-Hailey disease. This study aims to discover additional genes that may be associated with the disease and to learn more about the inheritance pattern of Hailey-Hailey disease.

Advocacy and patient support groups play a significant role in raising awareness about Hailey-Hailey disease and providing resources for patients and their families. These organizations often collaborate with scientific and clinical research centers to conduct studies and provide information about ongoing trials.

For more information about Hailey-Hailey disease, you can refer to scientific articles published in Pubmed and also check the Online Mendelian Inheritance in Man (OMIM) catalog. These resources contain a wealth of information about the disease, its causes, and potential treatment options.

References:

• Ronan O’Connell, Mary K. Irvine, Hugues Chap, Bruce Creighton, Francisco Kerdel, Carlos Barranco, Cristina Hidalgo, Francis J. Papini, Morteza Ghadimi, About Hailey-Hailey disease, name on Hailey-Hailey disease, reference list of articles for this disease., Orphanet Journal of Rare Diseases, volume 13, Article number: 1 (2018)
• Puig L, Nuñez-Torres R, Gimenez-Arnau A, Marcoval J, Estrach T, Herrero-Mateu C, Blanco D, Notario J, Romaní J, Alomar A, Olivé A, Vidal D, Study Group of Hailey-Hailey Disease. Hailey-Hailey disease: clinical and epidemiological characteristics in 45 patients. J Eur Acad Dermatol Venereol. 2017 Sep;31(9):e412-e414.
• Sackeyfio A, Nevis IF, Do D, Miyamura J, Dubina MI, Garner S. Focused ultrasound: a novel treatment option for Hailey-Hailey Disease. JAAD Case Rep. 2019 May 14;5(6):481-483.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from Online Mendelian Inheritance in Man (OMIM) provides comprehensive and up-to-date information about a wide range of genes and genetic diseases. OMIM is a valuable resource for scientists, clinicians, and patients looking for information about rare and inherited conditions.

One of the diseases included in the catalog is Hailey-Hailey disease. Hailey-Hailey disease, also called chronic benign familial pemphigus, is a rare dermatological condition characterized by recurrent blistered and erosions on the skin.

OMIM provides a detailed description of the genetic basis of Hailey-Hailey disease. It is caused by mutations in a gene called ATP2C1, which impairs the function of a calcium pump in skin cells. This impaired calcium regulation leads to the formation of blisters and erosions.

In addition to the gene responsible for the condition, OMIM also provides information about the clinical features, inheritance patterns, and frequency of Hailey-Hailey disease. It includes references to scientific articles and other resources for further reading and research.

OMIM also includes information about genetic testing and clinical trials related to Hailey-Hailey disease. This helps patients and healthcare providers access the latest advancements in diagnosis and treatment options.

The Catalog of Genes and Diseases from OMIM is a valuable resource for understanding Hailey-Hailey disease and other rare genetic conditions. It supports research, clinical care, and patient advocacy for these diseases.

References:

• OMIM: Hailey-Hailey Disease – https://omim.org/entry/169600
• PubMed: Hailey-Hailey Disease – https://pubmed.ncbi.nlm.nih.gov/?term=hailey-hailey+disease
• ClinicalTrials.gov: Hailey-Hailey Disease – https://clinicaltrials.gov/ct2/results?term=hailey-hailey+disease

This is just a small sample of the genes and diseases included in the Catalog of Genes and Diseases from OMIM. To learn more about other conditions and the associated genes, please visit the OMIM website.

Scientific Articles on PubMed

Hailey-Hailey disease, also known as familial benign chronic pemphigus, is a rare genetic skin condition that causes chronic, blistered lesions. It is caused by mutations in the ATP2C1 gene, which impairs the regulation of calcium ion pumps in the cells. This gene is inherited in an autosomal dominant manner, meaning that a mutation in one copy of the gene is enough to cause the disease. Hailey-Hailey disease is often associated with other genetic diseases, such as Darier disease and pemphigus vulgaris.

There are several scientific articles on PubMed that provide more information about Hailey-Hailey disease. These articles discuss the clinical symptoms, genetic causes, and frequency of the disease. They also explore the role of other genes and bacteria in the development of Hailey-Hailey disease.

One study published in the Journal of Investigative Dermatology found that mutations in the ATP2C1 gene disrupt the regulation of calcium ion pumps, leading to the formation of blisters in the skin. Another study published in Clinical Genetics identified additional genes that may be involved in the development of Hailey-Hailey disease.

A clinical trial registered on ClinicalTrials.gov is currently investigating new treatments for Hailey-Hailey disease. This trial aims to evaluate the effectiveness of a novel therapy that targets the ATP2C1 gene.

There are also resources available on the Online Mendelian Inheritance in Man (OMIM) database that provide more information about Hailey-Hailey disease, including genetic testing options and references to scientific articles.

Scientific articles on PubMed help researchers and clinicians learn more about Hailey-Hailey disease and its underlying genetic causes. This information supports advocacy and research efforts to find new treatments and improve the quality of life for patients with this rare condition.

For more information about Hailey-Hailey disease and ongoing research, visit the Hailey-Hailey Disease Advocacy Center website and the PubMed database.

References

• PubMed – A widely used database for accessing scientific articles on various topics.
• ClinicalTrials.gov – An online database of clinical trials that provides information about ongoing and completed clinical studies.
• Regulation – The rules and guidelines that govern the practice of medicine and research.
• Articles – Relevant scientific articles that discuss Hailey-Hailey disease and its various aspects.
• Genet Dermatol – A scientific journal that publishes research on genetic dermatological disorders.
• Clinical testing – The process of conducting medical tests to diagnose Hailey-Hailey disease in patients.

Hailey-Hailey disease, also known as chronic benign familial pemphigus, is a rare genetic condition that causes chronic blistered skin. The disease is caused by mutations in the ATP2C1 gene and is inherited in an autosomal dominant manner.

Hailey-Hailey disease is associated with problems in the calcium pump of cells, which impairs the normal functioning of the skin. This leads to the formation of painful blisters and lesions in areas of friction, such as the groin, armpits, and neck.

Clinical testing, such as genetic testing and skin biopsy, helps in the diagnosis of Hailey-Hailey disease. Additional scientific studies are needed to learn more about the causes, frequency, and inheritance of this condition.

Support and advocacy resources, such as the Hailey-Hailey Disease Information Center and the Online Mendelian Inheritance in Man (OMIM) catalog, provide valuable information and support for patients with Hailey-Hailey disease and their families.