Hidradenitis suppurativa

Title

Not a rare disease

Other Names:

Acne inversa

Categories:

Skin Diseases

Summary Summary

Hidradenitis suppurativa (HS) is an inflammatory, chronic skin disease characterized by recurrent, painful, boil-like lumps (nodules) under the skin. HS affects the areas around skin folds (e.g., armpits, groin, and breasts) and where apocrine glands (a form of sweat gland) and hair follicles are found. It is not contagious. It typically manifests as a single pocket of pus (abscess) or hard, sebaceous lumps (lumps composed of sebum, or oil, which is excreted by the sebacous glands associated with hair follicles). It may progress to painful, deep-seated, inflamed clusters of lesions with chronic seepage involving significant scarring.^[1] In most cases, the cause of HS is unknown. It is likely that it results from a combination of genetic and environmental factors. Some cases of HS have been associated with specific genes, including NCSTN, PSEN1, and PSENEN.^[2]

Last updated: 3/6/2015

Symptoms Symptoms

Hidradenitis suppurativa (HS) is characterized by:^[3]

Small pitted areas of skin containing blackheads;
Red, tender bumps or lesions that enlarge, break open and drain pus that may have an unpleasant odor;
Painful hard lumps that develop under the skin and may enlarge and/or persist for years; and/or
Leaking bumps or sores that heal very slowly and can lead to scarring and tunnels under the skin (called sinus tracts).

HS commonly occurs in areas near hair follicles where there are many oil and sweat glands. This includes places like the armpit, groin and anal area. It can also occur in areas where skin folds or rubs together, including the inner thighs, under the breasts, and between the buttocks.^[3]^[4]

This condition most often presents after puberty and can persist for years, worsening over time. Three stages of disease have been described which progress from single or localized abscesses accompanied by itching or discomfort, to recurrent abscesses that occur in multiple locations, to widespread severe disease that can restrict movement, obstruct lymph drainage and lead to social isolation.^[4]^[1]

Last updated: 5/31/2017

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.

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Medical Terms	Other Names	Learn More: HPO ID
Percent of people who have these symptoms is not available through HPO
Acne inversa		0040154
Atypical scarring of skin	Atypical scarring	0000987
Autosomal dominant inheritance		0000006

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 5/1/2018

Cause Cause

The underlying cause of hidradenitis suppurativa (HS ) is not known in most cases. Researchers suspect that there may be several potential underlying causes of genetic, endocrine, microbiological, and environmental origin.^[5]^[6]

A family history of HS is reported in approximately 1/3 patients. Researcher suspect that HS is inherited or passed down in an autosomal dominant manner. This means that if an individual inherits HS, they have a 50% chance to pass it to the next generation. These risks may be lower, as there are likely other influences that impact one's likelihood of developing HS. Researchers are currently trying to identify which genes may be implicated in HS. Some cases have been found to result from mutations in the NCSTN, PSEN1, or PSENEN gene. More studies are needed to determine whether other genes might be involved.^[6]^[2]

Last updated: 7/6/2016

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

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 known cure or a consistently effective treatment. Initial treatments may involve conservative measures such as warm baths, hydrotherapy, and topical cleansing agents to reduce bacterial loads. Acute painful skin lesions may be treated with corticosteroids (e.g., prednisone) or anti-inflammatory pills (e.g., Celebrex, Advil, Naproxen, and others). Although not proven to be effective, antibiotics are often the mainstay of medical treatment, especially for lesions suspected of being super infected. Affected individuals may also be treated with oral contraceptives or other medications that address a possible hormonal cause. Oral retinoids such as isotretinoin have also been used. Other treatments that have been used with limited success include cisplatin, methotrexate, 5-alpha reductase inhibitors, and TNF-alpha inhibitors.^[1]^[5]^[7]

In advanced cases, affected individuals may undergo surgery (e.g., laser therapy or photodynamic therapy), but recurrences of HS are not uncommon. Systemic therapies are still being researched. The goals of these therapies are to heal existing lesions and prevent the development of new lesions in the areas potentially affected by the disease.^[1]^[5]^[7]

Last updated: 3/6/2015

FDA-Approved Treatments

The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.

Adalimumab (Brand name: Humira) - Manufactured by AbbVie Inc.
FDA-approved indication: Treatment of moderate to severe hidradenitis suppurativa (Hurley stage 2 and Hurley stage 3 disease)
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Do you have updated information on this disease? We want to hear from you.

Find a Specialist 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.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

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. Online directories are provided by 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.
The Hidradenitis Suppurativa Foundation provides a list of Hidradenitis Suppurativa Specialty Clinics that provide medical care for people with HS.

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 related to Hidradenitis suppurativa. 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

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

Canadian Hidradenitis Suppurativa Foundation (CHSF)
1385 Bank Street, Suite 425
Ottawa ON K1H 8N4
Canada
E-mail: information@hs-foundationcanada.org
Website: http://hs-foundationcanada.org/en/home/
Hidradenitis Suppurativa Foundation, Inc. (HS Foundation)
1301 20th Street, Suite 570
Santa Monica, CA 90404
E-mail: executivedirectorhsf@gmail.com
Website: http://www.hs-foundation.org
Hope for HS
Website: http://hopeforhs.org/
Contact form: http://hopeforhs.org/contact-us
The Hidradenitis Suppurativa Trust
Unit 6 Fort Horsted
Chatham, ME4 6HZ United Kingdom
E-mail: enquiries@hstrust.org
Website: http://www.hstrust.org/

Social Networking Websites

Hidradenitis Suppurativa Awareness
Website: http://hidradenitissuppurativaawareness.org/

Do you know of an organization? We want to hear from you.

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

The American College of Osteopathic Dermatology (ACOD) has developed an information page on hidradenitis suppurativa. Click on the ACOD link to learn more.
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 (GHR) contains information on Hidradenitis suppurativa. This website is maintained by the National Library of Medicine.
Mayo Clinic has an information page on Hidradenitis suppurativa.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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.
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 Hidradenitis suppurativa. 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 weight loss helpful in managing hidradenitis suppurativa symptoms? See answer
My friend has hidradenitis suppurativa. Can you please help me find more information? See answer

Have a question? Contact a GARD Information Specialist.

References References

Lee R. Hidradenitis Suppurativa. National Organization of Rare Disorders (NORD). 2012; http://rarediseases.org/rare-diseases/hidradenitis-suppurativa/.
Hidradenitis suppurativa. Genetics Home Reference. December 2013; http://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa.
Hidradenitis suppurativa: Symptoms. Mayo Clinic. April 13, 2016; http://www.mayoclinic.org/diseases-conditions/hidradenitis-suppurativa/basics/symptoms/con-20027334.
Kidradenitis suppurativa. The Hidradenitis Suppurativa Trust. November 10, 2012; http://www.hstrust.org/info.html.
Jovanovic M. Hidradenitis Suppurativa. Medscape Reference. January 5, 2015; http://emedicine.medscape.com/article/1073117-overview#showall.
Ingram JR. The Genetics of Hidradenitis Suppurativa. Dermatol Clin. January 2016; 34(1):23-28. http://www.ncbi.nlm.nih.gov/pubmed/26617354.
Hughes R, Kelly G, Sweeny C, Lally A, Kirby B. The Medical and Laser Management of Hidradenitis Suppurativa. Am J Clin Dermatol. April 2015; 16(2):111-23. http://www.ncbi.nlm.nih.gov/pubmed/25708371.