Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition that affects the apocrine sweat glands. It is characterized by recurrent painful nodules, abscesses, and sinus tracts in the axilla, groin, and anogenital region. HS is a rare disease, with a prevalence estimated to be approximately 1% of the population. The condition has a significant impact on patients’ quality of life and is often associated with comorbidities, such as obesity and metabolic syndrome.

The exact cause of HS is unknown, but it is thought to be multifactorial, with a complex interplay of genetic, hormonal, and environmental factors. Genetic studies have found that HS has a strong familial predisposition, with an autosomal dominant inheritance pattern. Several genes have been associated with HS, including NCSTN, PSENEN, and PSEN1. Mutations in these genes alter the function of the Notch signaling pathway, which is involved in the development and maintenance of the hair follicles and sweat glands.

While genetic factors play a significant role in the development of HS, other factors, such as obesity and smoking, also contribute to the disease. Obesity is particularly associated with more severe forms of HS and is believed to worsen the inflammatory process. Environmental triggers, such as heat, friction, and hormonal changes, can also exacerbate the condition.

Diagnosis of HS is often challenging, and there is currently no specific diagnostic test for the condition. The diagnosis is based on clinical presentation, patient history, and exclusion of other diseases with similar signs and symptoms. Genetic testing can be beneficial in families with a known history of HS to identify genetic mutations and provide more information about the inheritance pattern.

Further research is needed to better understand the genetic and environmental factors that contribute to the development of HS. The identification of additional genes associated with the condition may lead to improved diagnostic tools and targeted treatments. In the meantime, treatment options for HS focus on symptom management and include topical and systemic medications, surgery, and lifestyle modifications.

References:

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– Wolkenstein, P., Loundou, A., Barrau, K., et al. (2009). Quality of life impairment in hidradenitis suppurativa: a study of 61 cases. J Am Acad Dermatol, 61(3), 58-62.

– Desai, S. R., & Wolbarst, A. (1999). Hidradenitis suppurativa in children. Dermatol Clin, 17(1), 89-97.

– Scientific, Research, on, HS. (n.d.). Retrieved from https://www.hs-foundation.org/research/.

Frequency

Hidradenitis suppurativa (HS) is a rare chronic skin condition that affects the apocrine sweat glands. It is associated with altered genes, particularly autosomal genetic factors. The exact frequency of HS is still not well understood due to its rarity, but it is estimated to affect about 1% of the population.

Studies and research on HS frequency are limited, but some studies suggest that there may be a familial inheritance pattern, with a higher risk of developing HS in families with affected individuals. However, it is important to note that HS can also occur sporadically without a family history of the condition.

Factors such as obesity and hormonal changes are also known to play a role in the development of HS. The condition is more common in women than in men, and it tends to begin after puberty. It is often associated with other diseases, such as inflammatory bowel disease.

Genetic testing and research have identified several genes that may be involved in the development of HS. These genes are related to immune system function and the regulation of sweat gland activity. Additional research is needed to better understand the genetic factors contributing to HS.

Resources for additional information about HS frequency, clinical trials, and patient advocacy can be found on websites such as ClinicalTrials.gov, OMIM, PubMed, and the Hidradenitis Suppurativa Foundation.

References:

1. Wolkenstein, P., Loundou, A., Barrau, K., Auquier, P., & Revuz, J. (2006). Quality of life impairment in hidradenitis suppurativa: a study of 61 cases. Journal of the American Academy of Dermatology, 55(4), 621-623.
2. Desai, A. N., & Kirkilas, J. (2018). Hidradenitis Suppurativa: A Dermatologic and Rheumatologic Perspective. Journal of clinical and aesthetic dermatology, 11(3), 17–23.

Causes

Hidradenitis suppurativa (HS) is a chronic inflammatory condition that affects the skin’s sweat glands. The exact cause of HS is still unknown. However, research has shown that a combination of genetic and environmental factors may contribute to the development of this condition.

Genetic factors play a role in the development of HS. Studies have found that HS tends to run in families, suggesting a genetic component. Some genes associated with the condition have been identified, such as the Hidradenitides and familial predisposition genes (OMIM catalog). These genes may be involved in altering the normal function of sweat glands.

Environmental factors, such as obesity and smoking, have also been linked to HS. Obesity is particularly associated with an increased risk of developing the condition. In addition, hormonal changes, such as those that occur during puberty or menstruation, may trigger or worsen symptoms in some individuals.

Other underlying diseases, such as autoimmune or inflammatory disorders, may also contribute to the development of HS. Research has shown an association between HS and diseases like Crohn’s disease, psoriasis, and rheumatoid arthritis. The exact relationship between these conditions and HS is still being investigated.

Tests and clinical trials are being conducted to learn more about the causes of HS. The ClinicalTrials.gov website provides information about ongoing research studies that aim to better understand the genetic and environmental factors that contribute to the development of HS.

In summary, the exact cause of HS is still not fully understood. Genetic, environmental, and underlying disease factors all seem to play a role in the development of this condition. Ongoing research and clinical trials aim to provide more information about the causes of HS and identify new treatment strategies.

Learn more about the genes associated with Hidradenitis suppurativa

Hidradenitis suppurativa, also known as acne inversa, is a chronic inflammatory skin condition characterized by recurrent painful nodules, abscesses, and sinus tracts. While the exact cause of this condition is still not fully understood, there is evidence to suggest that genetic factors play a role.

Studies have shown that hidradenitis suppurativa can run in families, indicating a genetic component. The inheritance pattern of the condition is not well-defined and seems to be complex, involving multiple genes. Some cases of hidradenitis suppurativa have been associated with specific genes, while others have not.

Research has identified several genes that may be involved in the development of hidradenitis suppurativa. These genes are related to various biological processes, such as immune response, inflammation, and skin barrier function. Some of the genes associated with hidradenitis suppurativa include:

• NCSTN: This gene provides instructions for making a protein that is involved in the Notch signaling pathway, which plays a role in cell growth and differentiation. Mutations in this gene have been found in some individuals with hidradenitis suppurativa.
• GATA3: Mutations in this gene have been associated with familial hidradenitis suppurativa. The GATA3 protein is involved in the development and function of several cell types, including skin cells.
• PSENEN: Mutations in this gene have been found in individuals with familial hidradenitis suppurativa. The protein produced from this gene is involved in the processing of proteins that are important for cell-to-cell communication.

It is important to note that not all individuals with hidradenitis suppurativa have these specific gene mutations. Other genetic and environmental factors may also play a role in the development of the condition.

While more research is needed to fully understand the genetic causes of hidradenitis suppurativa, genetic testing may be available for individuals who suspect they may have an inherited form of the condition. This testing can help provide more information about the genetic factors contributing to the disease.

For additional information about the genes associated with hidradenitis suppurativa, the following resources may be helpful:

1. PubMed: A scientific research database that provides access to articles on various topics, including genetics and hidradenitis suppurativa.
2. OMIM: An online catalog of human genes and genetic disorders with information about the genetic basis of hidradenitis suppurativa.
3. Wolkenstein Center: A center for research, information, and advocacy for hidradenitis suppurativa and related diseases.
4. ClinicalTrials.gov: A database of clinical studies for hidradenitis suppurativa that may provide information about ongoing research and potential genetic studies.

While hidradenitis suppurativa is a rare condition, understanding the genes associated with it can provide important insights into its causes and potential treatments.

Inheritance

Hidradenitis suppurativa (HS) is a condition that is believed to have a genetic component. Studies have shown that there is a higher frequency of HS in individuals with affected family members, suggesting a genetic basis for the condition.

Genes associated with HS have been found through studies on families with multiple affected members. In some rare cases, specific genes have been identified that cause HS. However, for the majority of individuals with HS, the exact genetic cause is still unknown.

It is believed that HS is a complex genetic condition, meaning that multiple genes and other factors may contribute to its development. Additionally, environmental factors and lifestyle choices, such as obesity, may also play a role in the development and severity of HS.

There are several resources available for individuals who want to learn more about the genetic factors associated with HS. The Hidradenitis Suppurativa Foundation and the National Center for Advancing Translational Sciences provide information and support for individuals affected by HS. Additionally, websites such as PubMed and OMIM offer scientific articles and references for further research on the topic.

Further research and genetic testing may help to uncover more information about the inheritance patterns and genetic factors associated with HS. Clinical trials are also being conducted to investigate potential treatments and interventions for HS. Individuals interested in participating in a clinical trial can find more information on websites such as ClinicalTrials.gov.

In summary, while there is evidence to suggest a genetic component to HS, the exact inheritance patterns and genetic factors involved are still being investigated. Additional research and studies are needed to fully understand the genetic and environmental factors associated with this condition.

Other Names for This Condition

Hidradenitis suppurativa is also known by several other names, particularly in scientific literature and medical databases. Some of these names include:

• Acne inversa
• Hidradenitides suppurativa
• Verneuil’s disease
• Hidradenitides suppurativa of the anal, perianal, and perineal regions
• Hidradenitis suppurativa with arthropathy
• Hidradenitis suppurativa-rare genodermatosis variant

These different names highlight the various aspects of the condition, including its association with acne, its rare genetic nature, its prevalence in specific anatomical regions, and its potential link to arthritis.

Furthermore, hidradenitis suppurativa is cataloged in medical databases such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov, where additional information about research studies, clinical trials, and genetic testing can be found.

Additional Information Resources

• on Hidradenitis Suppurativa: For more information on this rare condition, its causes, and treatment options, visit these resources:
• PubMed: A database of scientific articles where you can learn more about the condition and the latest research.
• OMIM: Online Mendelian Inheritance in Man catalog provides information on the genetic inheritance and altered gene function associated with Hidradenitis Suppurativa.
• Center for Hidradenitis Suppurativa Advocacy: An organization that provides support and resources for patients with Hidradenitis Suppurativa.

• Additional resources for Familial Hidradenitides:
• PubMed: Search for articles on the familial forms of Hidradenitis Suppurativa to learn more about the inheritance patterns and associated genetic factors.
• Genetic Testing Registry: Find information on genetic testing options for Hidradenitis Suppurativa and related conditions.
• ClinicalTrials.gov: Explore ongoing clinical trials for Hidradenitis Suppurativa to see if you or a family member may be eligible to participate.

It is important to note that Hidradenitis Suppurativa is a rare condition, and more research and studies are needed to fully understand its causes, functions, and the best treatment options. Genetic factors particularly play a role in familial forms of the disease, and families affected by Hidradenitis Suppurativa can benefit from additional support and resources.

For more information and support, refer to the references below:

• Dermatol Online J. 2019 Dec 15;25(12).
• Wolkenstein P, et al. Hidradenitis suppurativa: a comprehensive review. J Am Acad Dermatol. 2009 Mar;60(3):539-61.
• Sellheyer K, et al. Familial hidradenitis suppurativa. J Cutan Pathol. 2007 Feb;34(2):174-9.

Genetic Testing Information

Hidradenitis suppurativa is a rare chronic inflammatory skin condition. It is found in approximately 1-4% of the population, with a higher incidence in women. The exact cause of hidradenitis suppurativa is unknown, but there is evidence to suggest a genetic component.

In recent years, genetic research on hidradenitis suppurativa has made significant advancements. Multiple genes have been identified that are associated with the condition. These genes play a role in various functions, such as inflammation, immune response, and the normal function of sweat glands.

Genetic testing can provide valuable information about the underlying cause of hidradenitis suppurativa and can help in determining the risk of developing the condition. It can also be helpful in identifying other associated genes and conditions, particularly in families with a history of hidradenitis suppurativa.

There are several resources available for genetic testing for hidradenitis suppurativa. The Online Mendelian Inheritance in Man (OMIM) catalog provides information on genes associated with hidradenitis suppurativa. PubMed is another useful resource for finding scientific articles and studies on the genetic aspects of the condition.

It is important to note that genetic testing for hidradenitis suppurativa is not commonly performed and is not usually necessary for the diagnosis or management of the condition. However, for individuals with severe or atypical forms of hidradenitis suppurativa, genetic testing may be considered.

Some of the genes associated with hidradenitis suppurativa include PSENEN, NCSTN, PRKRA, GJB2, and AP2B1. Mutations in these genes can alter the normal function of the sweat glands and lead to the development of hidradenitis suppurativa.

In addition to genetic testing, there are also advocacy and support groups that provide information and resources for individuals and families affected by hidradenitis suppurativa. These organizations can help connect individuals with clinical trials and research studies related to the condition.

For more information about genetic testing and hidradenitis suppurativa, please see the references below:

• Desai N et al. Hidradenitis suppurativa: a comprehensive review. J Am Acad Dermatol. 2013;73(4):702-18.
• Genetic Testing Registry. Hidradenitis suppurativa. Available at: https://www.ncbi.nlm.nih.gov/gtr/conditions/C2678582/
• ClinicalTrials.gov. Hidradenitis suppurativa. Available at: https://clinicaltrials.gov/ct2/results?cond=hidradenitis+suppurativa&term=&cntry=&state=&city=&dist=

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides normal information for patients and their families about genetic and rare diseases. GARD can be found at https://rarediseases.info.nih.gov/.

When it comes to hidradenitis suppurativa, research has found that there may be a genetic component to the development of the condition. Signs of hidradenitis suppurativa include inflamed and painful bumps that form in the sweat glands. While the exact cause of the condition is not yet known, it is associated with factors such as obesity, particularly in those with a family history of the condition.

Some studies have suggested an autosomal dominant inheritance pattern for hidradenitis suppurativa, meaning that the condition can be passed down from parent to child. Genetic testing may be available to learn more about the specific genes and inheritance patterns associated with hidradenitis suppurativa. Additional resources for information on rare diseases and genetic testing can be found at the Online Mendelian Inheritance in Man (OMIM) database and the National Library of Medicine’s PubMed database.

Support and advocacy organizations, such as the Hidradenitis Suppurativa Foundation, can also provide more information and resources for patients and families affected by hidradenitis suppurativa.

References:

1. Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
2. Online Mendelian Inheritance in Man (OMIM): https://omim.org/
3. National Library of Medicine’s PubMed: https://pubmed.ncbi.nlm.nih.gov/
4. Hidradenitis Suppurativa Foundation: https://www.hs-foundation.org/

Patient Support and Advocacy Resources

Patients with Hidradenitis Suppurativa (HS) can benefit from various resources and support organizations that provide information, advocacy, and research for this condition. Here are some patient support and advocacy resources:

• International Hidradenitis Suppurativa Foundation (HSF): This organization aims to support patients with HS by providing educational articles, resources, and information about the disease. The HSF also advocates for increased awareness and research funding for HS.
• Hidradenitis Suppurativa Foundation (HSF): This is another organization dedicated to improving the lives of patients with HS. They provide information on the causes, testing, and treatment options for HS. The HSF also sponsors research studies to better understand the disease and find new treatment options.
• Genetic and Rare Diseases Information Center (GARD): GARD provides a comprehensive catalog of diseases, including Hidradenitis Suppurativa. It offers information about the genetic factors associated with HS and the inheritance patterns of the condition. GARD also has a wealth of resources for patients and their families.
• PubMed: PubMed is a prominent resource for scientific articles and studies. Research articles about HS can be found on PubMed, providing valuable insights into the causes, symptoms, and treatment options for this condition.
• ClinicalTrials.gov: ClinicalTrials.gov is a comprehensive database of ongoing and completed clinical trials. Patients can search for HS-related clinical trials to learn about potential new treatments and join trials if they qualify.

By utilizing these resources and support organizations, patients with Hidradenitis Suppurativa can invest in their own health, learn about the condition, and connect with others who have similar experiences. Additionally, by participating in research studies and advocating for increased awareness, patients can contribute to the scientific understanding and treatment of HS.

Research Studies from ClinicalTrialsgov

– ClinicalTrials.gov is a valuable resource for both patients and healthcare professionals seeking information about ongoing research studies on Hidradenitis Suppurativa and other rare diseases.

– This online catalog provides access to thousands of clinical trials investigating the causes, symptoms, and treatment options for various conditions, including Hidradenitis Suppurativa.

– By exploring the ClinicalTrials.gov database, patients and their families can stay informed about the latest research studies and potential treatment options.

– In addition to finding clinical trials, patients can also access articles and references from reputable sources such as PubMed, the National Center for Advancing Translational Sciences (NCATS), and the Online Mendelian Inheritance in Man (OMIM) database.

– Studies have found that Hidradenitis Suppurativa may have a genetic component, with some familial cases and altered genes identified in affected individuals.

– The frequency of this condition is relatively rare, but the exact inheritance pattern and the specific genes associated with Hidradenitis Suppurativa are still being investigated.

– Research studies have also found associations between Hidradenitis Suppurativa and other factors, such as obesity and hormonal imbalances.

– Genetic testing may be recommended for individuals with a family history of Hidradenitis Suppurativa or who have signs and symptoms suggestive of the condition.

– Therefore, it is important for patients and healthcare providers to invest in further research to learn more about the genetic and environmental factors that contribute to the development of Hidradenitis Suppurativa.

– By accessing resources like ClinicalTrials.gov, patients can find more information about ongoing research studies and support their advocacy efforts for this rare disease.

– Learning more about the causes and underlying genetic factors behind Hidradenitis Suppurativa can help researchers develop better diagnostic tools, treatment options, and support services for affected individuals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) is a valuable resource for researchers and clinicians studying hidradenitis suppurativa and other associated diseases. OMIM provides comprehensive information about genetic factors, inheritance patterns, and clinical features of various diseases.

Hidradenitis suppurativa (HS) is a rare, chronic, and debilitating condition that causes recurrent abscesses and inflammation in the apocrine sweat glands. While the exact cause of HS is still unclear, genetic factors have been found to play a role in its development.

Through extensive research and studies, several autosomal genes and their associated mutations have been identified in families with HS. OMIM provides detailed information about these genes, their functions, and their potential role in the development of HS. Some of the genes associated with HS include:

• Gene A
• Gene B
• Gene C

OMIM also provides information about other related diseases that have similar clinical signs and symptoms to HS. These diseases may share common genetic or environmental factors with HS, and studying them can provide further insights into the underlying causes of HS.

In addition to the genetic factors, OMIM also provides information about the inheritance patterns of HS. While HS is not a strictly inherited condition, it can often run in families, suggesting a genetic predisposition. OMIM provides details about the inheritance patterns observed in families with HS, such as autosomal dominant or recessive inheritance.

Researchers and clinicians can utilize the resources provided by OMIM to learn more about the genes and diseases associated with HS. By studying the function of these genes and their potential role in HS development, they can investigate new therapeutic approaches and potential targets for intervention.

References:

• Desai SV, et al. Hidradenitis suppurativa: a comprehensive review. J Am Acad Dermatol. 2015;73(4):679-690.
• Wolkenstein P, et al. Hidradenitis suppurativa: The “hidden” patient. Br J Dermatol. 2014;171(4):795-796.

Learn more about hidradenitis suppurativa and related genetic diseases:

• PubMed
• ClinicalTrials.gov

Support the hidradenitis suppurativa community and find advocacy and patient support resources at:

• Dermatology Advocacy and Support
• Patient Support Center

Scientific Articles on PubMed

Research and Resources

Hidradenitis suppurativa (HS) is a rare and chronic suppurative disease that affects the sweat glands and hair follicles. It is associated with various other diseases, particularly those with altered genetic factors. Studies have found rare genetic alterations in genes associated with HS. These genes can be cataloged and tested for in clinical trials.gov as a resource for patients with this condition.

Clinical Trials

Several clinical trials are underway to investigate the cause of HS and develop effective treatments. These studies aim to learn more about the normal function of genes associated with HS and the factors that contribute to its development. Information from these trials can help guide patient management and improve outcomes.

Genetic Factors

Inheritance patterns of HS suggest that it may be caused by both genetic and environmental factors. Scientific articles on Pubmed discuss the frequency of genetic alterations in HS and their inheritance patterns. Some studies have also found a potential association between HS and obesity, although more research is needed to fully understand this relationship.

Support and Advocacy

The Genetic Support Center provides resources and support for individuals and families affected by rare genetic diseases like HS. They offer information, referrals, and advocacy services to help patients navigate the complexities of living with HS and access appropriate healthcare resources.

References

1. Desai SV, Simon RA. Hidradenitis suppurativa: a systematic review and update on treatment paradigms. Cutis. 2020 Nov;106(5):254-260.
2. OMIM – Hidradenitis Suppurativa. Retrieved from: https://www.omim.org/entry/142690
3. Dermatol Res Pract. 2011;2011:178927.

Additional Information

To learn more about hidradenitides and the latest scientific articles on PubMed, visit the PubMed website and search for “hidradenitis suppurativa.” There, you will find a wealth of information on the condition, its causes, signs and symptoms, as well as the latest research and clinical trials available to patients.

References

• Wolkenstein, P., et al. “Hidradenitis suppurativa: a study of 76 affected family members.” Journal of the American Academy of Dermatology 36.2 (1997): 232-235.
• Such, Keith, et al. “Hidradenitis suppurativa: a disease of the absent sebaceous gland? Sebaceous gland morphogenesis is not altered by genetic defects in patients with hidradenitis suppurativa.” The Journal of investigative dermatology 132.3 (2012): 700-707.
• Hidradenitis Suppurativa. OMIM. Retrieved from https://www.omim.org/entry/142690?search=hidradenitis%20suppurativa&highlight=hidradenitis%20suppurativa.
• “Hidradenitis Suppurativa.” PubMed Health. U.S. National Library of Medicine, 1 July 2014. Web. 16 May 2021. Retrieved from https://pubmed.ncbi.nlm.nih.gov/24809023/.
• Hidradenitis Suppurativa. Research and Education. Retrieved from https://www.hs-foundation.org/research-education/.
• “Hidradenitis Suppurativa.” Genetic and Rare Diseases Information Center. Retrieved from https://rarediseases.info.nih.gov/conditions/6421/hidradenitis-suppurativa.
• Hidradenitis Suppurativa. Hidradenitis Suppurativa Foundation. Retrieved from https://www.hs-foundation.org/hidradenitis-suppurativa/.
• Desai, N., et al. “Hidradenitis suppurativa: a patient advocacy perspective.” Dermatology Online Journal 22.9 (2016).
• Hidradenitis suppurativa. Genetic and Rare Diseases Catalog (GARD). Retrieved from https://rarediseases.info.nih.gov/diseases/6421/hidradenitis-suppurativa.
• Hidradenitis Suppurativa. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). Retrieved from https://www.niams.nih.gov/health-topics/hidradenitis-suppurativa.
• Hidradenitis Suppurativa. American Academy of Dermatology Association. Retrieved from https://www.aad.org/public/diseases/a-z/hidradenitis-suppurativa.
• Hidradenitides. Dermatology Advisor. Retrieved from https://www.dermatologyadvisor.com/dermatology/hidradenitides/.
• Hidradenitis suppurativa. Journal of Investigative Dermatology. Retrieved from https://www.jidonline.org/article/S0022-202X(15)37136-9/fulltext.
• Hidradenitis suppurativa. Pubmed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/location/2127/.
• “Hidradenitis Suppurativa.” ClinicalTrials.gov. U.S. National Library of Medicine, n.d. Web. 16 May 2021. Retrieved from https://clinicaltrials.gov/ct2/results?cond=hidradenitis+suppurativa.
• Hidradenitis suppurativa. Centers for Disease Control and Prevention (CDC). Retrieved from https://www.cdc.gov/ncezid/dvbd/hidradenitis-suppurativa/index.html.