Pemphigus vulgaris

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Skin Diseases

Summary Summary

Pemphigus vulgaris is an autoimmune disorder that involves blistering 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 may result in difficulty to eat. The rupture of blisters in the skin may be painful and limit the patient's daily activities. Patients with pemphigus vulgaris typically heal without scarring unless the disease is complicated by an infection. Blisters in pemphigus vulgaris are associated with the binding of antibodies to the skin cells. However, the exact cause of pemphigus vulgaris is unknown.^[1]^[2]^[3] Treatment is aimed at reducing symptoms and preventing complications, and may include the use of corticosteroids and i mmunosuppressive drugs.^[1]^[3]

Last updated: 10/31/2016

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal blistering of the skin	Very frequent (present in 80%-99% of cases)
Abnormality of the oral cavity	Very frequent (present in 80%-99% of cases)
Acantholysis	Very frequent (present in 80%-99% of cases)
Atypical scarring of skin	Very frequent (present in 80%-99% of cases)
Autoimmunity	Very frequent (present in 80%-99% of cases)
Feeding difficulties in infancy	Very frequent (present in 80%-99% of cases)
Recurrent cutaneous abscess formation	Very frequent (present in 80%-99% of cases)
Urticaria	Very frequent (present in 80%-99% of cases)
Weight loss	Very frequent (present in 80%-99% of cases)

Last updated: 9/1/2017

Cause Cause

Pemphigus vulgaris is an autoimmune disorder. The immune system 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]^[4]

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 confer 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 in children or in older persons, as well.
Disease Association: Pemphigus commonly occurs in individuals 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.^[4]

Last updated: 10/31/2016

Treatment Treatment

The aim of treatment in pemphigus vulgaris is to decrease blister formation and promote healing of blisters and scarring. It is important to determine the minimal dose of medication necessary to control the disease process. Treatment is individualized, and takes into account the patient's other health conditions.^[3]^[1]

The medications that might be used to treat pemphigus vulgaris include:^[3]

Corticosteroids have improved the outcome of the disease, but because the use is for a long time there may be many adverse effects.
Immunosuppressive drugs such as rituximab, sulfasalazine, pentoxifylline, methotrexate, and dapsone
Intravenous immunoglobulin therapy
Infliximab
Photodynamic therapy
Mizoribine has been used for problems in the eye caused by the disease.

Last updated: 10/31/2016

Prognosis Prognosis

In the past pemphigus vulgaris was considered a very serious disease that could be fatal. Today, the disease is rarely fatal, and the majority of deaths occur from infections. For most people with pemphigus, the disease can be controlled with corticosteroids and other medications, and these medications can eventually be completely discontinued. However, these medications can cause side effects that may sometimes be serious. Pemphigus and its treatments can be debilitating and cause lost time at work, weight loss, loss of sleep, and emotional distress. Support groups may help patients cope with the disease.^[1]^[4]

The International Pemphigus Foundation provides patient support services to help people with the disease cope with its effects.^[4]

Last updated: 10/31/2016

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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 studying or have studied 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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Genetics 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 GeneTests, 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.

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.

News & Events News & Events

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
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August 10, 2017

GARD Answers GARD Answers

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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

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