Pemphigus vulgaris

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Skin Diseases

Summary Summary

Pemphigus vulgaris is an autoimmune disorder that involves blistering and erosion of the skin and mucous membranes. It occurs almost exclusively in middle-aged or older people. The primary lesion of pemphigus vulgaris is a soft blister filled with clear fluid that appears on healthy or irritated skin. Many cases begin with blisters in the mouth, followed by skin blisters that may come and go. The blisters inside the mouth can make it hard for the person to eat. The rupture of blisters on the skin may be painful and limit the person's daily activities.^[1]^[2]^[3] Complications due to infections can be serious and the damaging nature of the blisters can cause loss of body fluids and protein.^[4] The exact cause of pemphigus vulgaris is unknown, but the blisters in pemphigus vulgaris are associated with the binding of antibodies to the skin cells.^[1]^[2]^[3]^[4] Treatment is aimed at reducing symptoms and preventing complications, and may include the use of corticosteroids, i mmunosuppressive drugs, and more recently immunotherapy. Pemphigus vulgaris may require long term treatment to keep it in remission.^[1]^[3]^[4]

Last updated: 6/22/2018

Symptoms Symptoms

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
80%-99% of people have these symptoms
Abnormal blistering of the skin	Blistering, generalized Blisters [ more ]	0008066
Abnormal oral cavity morphology	Abnormality of the oral cavity	0000163
Acantholysis		0100792
Atypical scarring of skin	Atypical scarring	0000987
Autoimmunity	Autoimmune disease Autoimmune disorder [ more ]	0002960
Feeding difficulties in infancy		0008872
Recurrent cutaneous abscess formation		0100838
Urticaria	Hives	0001025
Weight loss		0001824

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Last updated: 12/1/2018

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Cause Cause

Pemphigus vulgaris is an autoimmune disorder. In the case of pemphigus vulgaris, the immune system mistakenly produces antibodies against specific proteins in the skin and mucous membranes, known as desmogleins. These proteins form the glue that keeps skin cells attached and the skin intact. When desmogleins are attacked, skin cells separate from each other and fluid can collect between the layers of skin, forming blisters that do not heal. In some cases, these blisters can cover a large area of skin.^[1]^[5]

Although it is rare, some cases of pemphigus vulgaris are caused by certain medications. Among others, medications that may cause this condition include:^[1]^[3]

Blood pressure medications called ACE inhibitors such as captopril
Chelating agents such as penicillamine, which remove certain materials from the blood
Antibiotics such as cephalosporin
Pyrazolones
Nonsteroidal anti-inflammatory drugs (NSAIDs)
Rifampin

Emotional stress, thermal burns, ultraviolet rays, and infections have also been reported as triggers for pemphigus vulgaris.

While in many cases the exact cause of pemphigus vulgaris remains unknown, several potentially relevant factors have been identified.^[2]^[3]

Genetic Factors: Predisposition to pemphigus is linked to genetic factors.Certain major histocompatibility complex (MHC) class II molecules, in particular alleles of human leukocyte antigen (HLA) DR4, appear to increase susceptibility to pemphigus vulgaris.
Age: Peak age of onset is from 50-60 years. Infants with neonatal pemphigus typically recover after protection from their mother's antibodies have cleared their systems. The disease may, nonetheless, develop at any age.
Disease Association: Pemphigus occurs more commonly in people who also have other autoimmune diseases, particularly myasthenia gravis and thymoma.

Pemphigus is not contagious. It does not spread from person to person. Though there can be a genetic predisposition to develop pemphigus, there is no indication the disease is hereditary.^[5]

Last updated: 6/22/2018

Treatment Treatment

The goal of treatment of pemphigus vulgaris is to promote and maintain remission, as well as avoid complications, such as infections. Medications and therapies are used to decrease blister formation and promote healing of blisters and reduce scarring. Once in remission, it is important to determine the minimal dose of medication necessary to control the disease process, since both long term use of steroids and other immunosuppressive drugs can increase the risk of other medical problems. Treatment is individualized, and takes into account the person's other health conditions.^[1]^[3]^[4]

The most common first line therapy for pemphigus vulgaris is:^[3]^[4]

Steroids (corticosteroids), such as prednisone. Steroids can help a person go into remission and stay in remission, however this must be balanced with the medical problems that can be caused by the long term use of steroids.

Other immunosuppessives and immunotherapies may be used in addition to steroid therapy to reduce the risk of relapse or to reduce the dosage strength of the steroid being used. Again the choice of the additional drug or therapy (adjuvant therapy) must be balanced against the possible negative side effects.

Most common choices to be added to steroid treatment (first line adjuvant therapies) include:^[3]^[4]

Rituximab (received FDA approval for PV in June 2018)
Azathioprine
Mycophenolate mofetil (MMF)

Other choices may include:^[3]^[4]

Intravenous immunoglobulin therapy (IVIg)
Cyclophosphamide, methotrexate, or dapsone,
Immunoadsorption (blood purification procedure that removes disease causing antibodies)

Additional medications may be considered if a person does not achieve remission with a combination of steroids and one of the medications or therapies listed above.^[3]

Antibiotics, antivirals, and antifungals may be used to prevent or fight an infection. Wound care may include baths and wound dressings to help heal blisters and sores. Severe cases of pemphigus vulgaris may require hospital stays to receive proper wound care, as well as intravenous fluids and electrolytes if mouth ulcers are severe. Treatment may also involve pain medication or pain management therapies.^[1]

Last updated: 6/22/2018

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.

Rituximab (Brand name: Rituxan) - Manufactured by Genentech, Inc.
FDA-approved indication: June 2018, approved for the treatment of adult patients with moderate to severe pemphigus vulgaris.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Prognosis Prognosis

Recent advances in the treatment of pemphigus vulgaris have significantly improved the long term outlook for people with the disease. For most people, the disease can be controlled with prednisone (corticosteroids) in combination with other medications or therapies. However, both the use of steroids and the other medications or therapies can cause side effects that may sometimes be serious, including increasing the risk of developing a fatal infection. Pemphigus vulgaris and its treatments can be debilitating and may cause lost time at work, weight loss, loss of sleep, and emotional distress. Connecting with others facing the same concerns and challenges can help a person cope with the changes the disease causes in their life.^[1]^[5]^[4]

The International Pemphigus Foundation provides patient support services to help people with the disease cope with its effects.^[5]

Last updated: 6/22/2018

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.

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 Pemphigus vulgaris. 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

International Pemphigus & Pemphigoid Foundation
1331 Garden Highway, Suite 100
Sacramento, CA 95833
Toll-free: 855-473-6744
Telephone: 916-922-1298
Fax: 916-922-1458
E-mail: info@pemphigus.org
Website: http://www.pemphigus.org

Social Networking Websites

RareConnect has an online community for patients and families with this condition so they can connect with others and share their experiences living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders).

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

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 Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on 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.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
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 Pemphigus vulgaris. 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

I was diagnosed with pemphigus vulgaris in 2004 at the age of 54. Is this disease something that I have had all of my life? Was it just in remission until I got older? See answer

Have a question? Contact a GARD Information Specialist.

References References

Berman K. Pemphigus vulgaris. MedlinePlus. April 29, 2016; https://medlineplus.gov/ency/article/000882.htm.
Pemphigus Vulgaris, Familial. Online Mendelian Inheritance in Man (OMIM). 2012; http://omim.org/entry/169610.
Zeina B. Pemphigus Vulgaris. Medscape Reference. June 14, 2018; http://emedicine.medscape.com/article/1064187-overview.
Kridin K. Emerging treatment options for the management of pemphigus vulgaris. Therapeutics and Clinical Risk Management. April 27, 2018; 14:757-778. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5931200/.
Pemphigus. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2015; http://www.niams.nih.gov/Health_Info/Pemphigus/default.asp.