Rare Endocrinology News

Disease Profile

Hidradenitis suppurativa

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

#N/A

ICD-10

#N/A

Inheritance

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

no.svg

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

no.svg

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.

no.svg

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

no.svg

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.

no.svg

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.

no.svg

Not applicable

no.svg

Other names (AKA)

Acne inversa

Categories

Skin Diseases

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]

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]

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]

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]

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 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]

    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.

    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

      Organizations Providing General Support

        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.

            References

            1. Hidradenitis Suppurativa. National Organization of Rare Disorders (NORD). 2012; https://rarediseases.org/rare-diseases/hidradenitis-suppurativa/.
            2. Hidradenitis suppurativa. Genetics Home Reference. December 2013; https://ghr.nlm.nih.gov/condition/hidradenitis-suppurativa.
            3. Jovanovic M. Hidradenitis Suppurativa. Medscape Reference. Updated Oct. 19, 2018; https://emedicine.medscape.com/article/1073117-overview.
            4. Ingram JR. Hidradenitis suppurativa: Pathogenesis, clinical features, and diagnosis. UpToDate. Apr 2018; https://www.uptodate.com/contents/hidradenitis-suppurativa-pathogenesis-clinical-features-and-diagnosis.
            5. Ingram JR. The Genetics of Hidradenitis Suppurativa. Dermatol Clin. January 2016; 34(1):23-28. https://www.ncbi.nlm.nih.gov/pubmed/26617354.
            6. 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.
            7. 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.
            8. Ingram JR. Hidradenitis suppurativa: Treatment. UpToDate. Jul 2018; https://www.uptodate.com/contents/hidradenitis-suppurativa-treatment.
            9. 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.

            Rare Endocrinology News