Rare Dermatology News

Disease Profile

Pemphigus vulgaris

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.
1-5 / 10 000

33,100 - 165,500

US Estimated

1-5 / 10 000

51,350 - 256,750

Europe Estimated

Age of onset

Childhood

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ICD-10

L10.0

Inheritance

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

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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

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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.

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

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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.

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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.

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Not applicable

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Categories

Skin Diseases

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, immunosuppressive drugs, and more recently immunotherapy. Pemphigus vulgaris may require long term treatment to keep it in remission.[1][3][4]

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.

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

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]

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]

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]

Other choices may include:[3][4] 

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]

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

    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).

      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.

          References

          1. Berman K. Pemphigus vulgaris. MedlinePlus. April 29, 2016; https://medlineplus.gov/ency/article/000882.htm.
          2. Pemphigus Vulgaris, Familial. Online Mendelian Inheritance in Man (OMIM). 2012; https://omim.org/entry/169610.
          3. Zeina B. Pemphigus Vulgaris. Medscape Reference. June 14, 2018; https://emedicine.medscape.com/article/1064187-overview.
          4. 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/.
          5. Pemphigus. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2015; https://www.niams.nih.gov/Health_Info/Pemphigus/default.asp.

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