Hidradenitis suppurativa

Title

Not a rare disease

Other Names:

Acne inversa

Categories:

Skin Diseases

Summary Summary

Hidradenitis suppurativa (HS) is a chronic skin disease which causes painful, boil-like lumps that form under the skin and often secrete pus and blood. HS occurs most often in areas where skin rubs together, such as the armpits, groin, and under the breasts. Symptoms usually begin after puberty. The first sign may be a single pocket of pus (abscess) or hard lumps associated with hair follicles. The abscesses or lumps often change to painful swollen clusters of skin sores that drain a bloody and often, bad smelling discharge. As the sores heal, they may leave hardened, rope-like scars or form tunnels under the skin (called sinus tracks) that can be disfiguring and make movement difficult. As time goes by, the skin lesions occur more often and get worse over time.^[1]^[2]^[3]^[4]

In most cases, the cause of HS is unknown. Genetics, environment, and hormonal factors may play a role. Some cases of HS have been associated with specific genes, including NCSTN, PSEN1, and PSENEN. Diagnosis of HS is made based on the clinical symptoms. Treatment of HS is determined by the severity of the symptoms and can include topical or oral antibiotics, anti-inflammatories, other medications, and surgery. Losing weight and stopping smoking can also improve the symptoms. HS causes chronic pain, significant scarring, and can be socially isolating, but is not life-threatening. People with HS have an increased chance to feel depressed or anxious, which, along with chronic pain, may impact their quality of life.^[1]^[2]^[3]^[4]

Last updated: 12/17/2018

Symptoms Symptoms

The symptoms of hidradenitis suppurativa (HS) include:^[2]^[3]^[4]

• Small pitted areas of skin containing blackheads
• Painful, red, bumps or lesions that enlarge, break open, and drain pus that may have an unpleasant odor
• Leaking bumps or sores that heal very slowly, recur over time, and can lead to scarring and tunnels under the skin (called sinus tracts)

Symptoms occur in places where skin rubs together such as the armpits, groin, buttocks, and under the breasts.^[3]

HS most often starts after puberty, lasts for years, and gets worse over time. HS is described as either mild, moderate, or severe. In the mild stage, people with HS have a single or a few lesions in one area of the skin. In this stage, the disease is often misdiagnosed. HS will eventually progress to moderate disease which includes repeated cycles of lesions that enlarge and break open. The lesions form in more than one body area where skin rubs together. In severe HS, people may have widespread lesions, scarring, and chronic pain that may make it hard to move.^[4]

Last updated: 12/17/2018

Cause Cause

The skin lesions of hidradenitis suppurativa (HS) are due to the abnormal blockage of hair follicles. This leads to an immune response which causes swelling, itching, and redness (inflammation). The inflamed lesions in the hair follicles fill with pus and blood causing the lesions to eventually burst open.^[2]^[4]

The underlying cause of HS is not known in most cases. Genetic, auto-inflammatory, hormonal, and environmental factors may be involved.^[3]^[4] Obesity and smoking may play a role in the severity of the disease. Thirty to forty percent of people with HS have at least one other family member with HS. Some cases of HS have been found to result from changes (mutations) in the NCSTN, PSEN1, or PSENEN gene. More studies are needed to determine whether other genes might be involved.^[5]^[6]

Last updated: 7/6/2016

Inheritance Inheritance

In some families, an increased risk (predisposition) to develop hidradenitis suppurativa (HS) is inherited in an autosomal dominant pattern.^[5] Like most genes, the NCSTN, PSEN1, and PSENEN genes come in pairs. Autosomal dominant means a person only needs a mutation in one copy of one of these genes to have an increased risk to develop HS.

Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the mutation and the condition. Offspring who inherit the mutation will have the condition, although they could be more or less severely affected than their parent. Sometimes a person may have a gene mutation for an autosomal dominant condition and show no signs or symptoms of the condition.

A person with HS has a 50% (1 in 2) chance to pass a mutation increasing the risk of developing HS on to each of his or her children. In addition to inheriting the mutation, exposure to other factors in the environment, hormonal changes, and/or the response of the immune system appear to also be needed for person to develop HS. Many people with HS have no family history of the disease.^[5]^[4]^[6]

Last updated: 12/17/2018

Diagnosis Diagnosis

There is not one specific test for diagnosing hidradenitis suppurativa (HS), and the disease is often misdiagnosed in the early stages. The diagnosis of this disease is made based on the identifying the typical skin lesions in areas of skin folds, a history of having the lesions more than one time, and a history of painful lesions that discharge pus.^[4]^[7]

Last updated: 12/17/2018

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 one reliably effective treatment for hidradenitis suppurativa (HS).^[7] For mild HS, topical antibiotics, injected corticosteroids, or anti-inflammatory pills may be used. Oral antibiotics may be used to help prevent new lesions. For moderate disease, people may be treated with oral antibiotics, oral retinoids such as isotretinoin, hormonal therapy, and/or surgery. For severe disease, medications that block TNF-alpha proteins which are involved in the inflammation process are used. Some of the these TNF-alpha inhibitors include adalimumab and infliximab. Adalimumab has been approved by the FDA for treatment of HS. In addition, other inflammatory system suppressants and strong antibiotics have been used, along with surgery for very difficult to treat areas. Other types of therapy are still being researched.^[7]^[8]^[9] European guidelines for the management of HS have been published.^[9]

Losing weight and quitting smoking can help with the symptoms of HS. In addition, people with HS are advised to wear loose fitting clothing and avoid skin abrasions. People with HS should also be monitored for signs of depression and anxiety. ^[7]

Last updated: 12/17/2018

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: October 2018, adalimunab (Humira) received expanded approval for the treatment of moderate to severe hidradenitis suppurativa (HS) to include patients 12 years and up. It was originally approved for adults with moderate to severe HS in September 2015.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Prognosis Prognosis

Hidradenitis suppurativa (HS) is a chronic disease, meaning it does not go away on its own. Despite current treatments, the lesions with HS usually continue to return. The disease usually becomes progressively more severe over time with the lesions developing more often, in greater number, and affecting more areas of the body. HS is not life-threatening, but people with this HS may have frequent pain, difficulty moving, and feel embarrassed or ashamed by their disease. This can cause social isolation, depression and/or anxiety and impact a person’s quality of life.^[1]^[8]

Last updated: 12/17/2018

Statistics Statistics

It is estimated that the prevalence of hidradenitis suppurativa is between 0.5 and 4%, and may affect about 11 in 100,000 people in the US. Females are more likely to be affected than males.^[4]^[7]

Last updated: 12/18/2018

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 MedlinePlus Genetics.
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.

Patient Registry

The Autoimmune Registry supports research for Hidradenitis suppurativa by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.

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: info@hsfoundation.ca
Website: https://hsfoundation.ca/en/home/
European Academy of Dermatology and Venereology (EADV)
Via S. Balestra 22B
CH-6900 Lugano
Switzerland
Telephone: 41 91 973 45 20
Fax: 41 91 973 45 30
E-mail: eavoffice@eadv.org
Website: http://www.eadv.org/
Hidradenitis Suppurativa Foundation, Inc. (HS Foundation)
1301 20th Street, Suite 570
Santa Monica, CA 90404
E-mail: https://www.hs-foundation.org/contact/
Website: http://www.hs-foundation.org
Hope for HS
5 E. Long Lake Road
Box 348
Troy, MI 48085
Telephone: 248-965-9589
E-mail: http://hopeforhs.org/contact-us
Website: https://hopeforhs.org/
The Hidradenitis Suppurativa Trust
Cliffe House, Anthony Way
Rochester, Kent, ME2 4DY United Kingdom
E-mail: https://www.hstrust.org/contact
Website: https://www.hstrust.org/

Social Networking Websites

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

Organizations Providing General Support

American Academy of Dermatology
1445 New York Ave, NW
Suite 800
Washington, DC 20005
Toll-free: 888-462-DERM (3376)
Fax: 847-240-1859
E-mail: https://www.aad.org/Forms/ContactUs/Default.aspx
Website: https://www.aad.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.
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.
MedlinePlus Genetics contains information on Hidradenitis suppurativa. 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.
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.

Have a question? Contact a GARD Information Specialist.

References References

Hidradenitis Suppurativa. National Organization of Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/hidradenitis-suppurativa/.
Hidradenitis suppurativa. Genetics Home Reference. December 2013; https://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa.
Jovanovic M. Hidradenitis Suppurativa. Medscape Reference. Updated Oct. 19, 2018; https://emedicine.medscape.com/article/1073117-overview.
Ingram JR. Hidradenitis suppurativa: Pathogenesis, clinical features, and diagnosis. UpToDate. Apr 2018; https://www.uptodate.com/contents/hidradenitis-suppurativa-pathogenesis-clinical-features-and-diagnosis.
Ingram JR. The Genetics of Hidradenitis Suppurativa. Dermatol Clin. January 2016; 34(1):23-28. http://www.ncbi.nlm.nih.gov/pubmed/26617354.
Acne inversa, familial, 1; ACNINV1. Online Mendelian Inheritance in Man (OMIM). Dec 2017; https://www.omim.org/entry/142690?search=acne%20inversa&highlight=acne%20inversa.
Saunte DMI and Jemec GBE. Hidradenitis suppurativa: Advances in diagnosis and treatment. JAMA. Nov 2017; 318(20):2019-2032. https://www.ncbi.nlm.nih.gov/pubmed/29183082.
Ingram JR. Hidradenitis suppurativa: Treatment. UpToDate. Jul 2018; https://www.uptodate.com/contents/hidradenitis-suppurativa-treatment.
Gulliver W, Zouboulis CC, Prens E, Jemec GB, Tzellos T. Evidence-based approach to the treatment of hidradenitis suppurativa/acne inversa, based on the European guidelines for hidradenitis suppurativa. Rev Endocr Metab Disord. Sep 2016; 17(3):343-351. https://www.ncbi.nlm.nih.gov/pubmed/26831295.