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Disease Profile

Pemphigus

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

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ICD-10

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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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Summary

Pemphigus is a group of rare autoimmune diseases that cause blistering of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals).[1] This condition can occur at any age, but often strikes people in middle or older age. Studies have shown that some populations may be at greater risk for certain types of pemphigus. For instance, people of Jewish descent and those from India, Southeast Europe, and the Middle East are at greater risk for pemphigus vulargis, while pemphigus foliaceus is more common in North America, Turkey, and South America.[2] Pemphigus is a chronic disease which is best controlled by early diagnosis and treatment.[3] Treatment includes steroids to reduce inflammation, drugs that suppress the immune system response and antibiotics to treat associated infections.[1][4]

There are four main types of pemphigus:[2]

  • Pemphigus vulgaris
  • Pemphigus foliaceus
  • IgA pemphigus
  • Paraneoplastic pemphigus
  • Treatment

    Treatment of pemphigus may consist of three phases: control, consolidation, and maintenance. The control phase involves intense therapy until no new lesions develop. In the consolidation phase, therapy continues until existing lesions have cleared. In the maintenance phase, medications are gradually reduced to the lowest possible dose that prevents the development of new lesions.[5] Different medications may be used alone or in combination depending on the severity in each person.[6] Medications that may be used to treat pemphigus include:[6][5][1][7]

    • Corticosteroids topical corticosteroids may be enough for people with mild pemphigus, but many people need systemic (oral) corticosteroids.
    • Immunosuppressants these prevent the immune system from mistakenly attacking healthy tissue. Examples include azathioprine, methotrexate, mycophenolate, cyclophosphamide, and cyclosporine.
    • Rituximab this is an injection that may be used if other medications are causing serious side effects or are ineffective. It is a biologic therapy that targets the cells responsible for making pemphigus antibodies.
    • IVIG (intravenous immune globulin)this is an intravenous treatment that may be given over the course of several days.
    • Plasmapheresis (also called plasma exchange) this is a therapy that removes the responsible antibodies from the blood.

    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).

        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

          • 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 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.
          • MayoClinic.com provides information about pemphigus. Click on the above link to access this information.

            In-Depth Information

            • 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.
            • PubMed is a searchable database of medical literature and lists journal articles that discuss Pemphigus. Click on the link to view a sample search on this topic.

              References

              1. Questions and Answers about Pemphigus. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). June 2015; https://www.niams.nih.gov/Health_Info/Pemphigus/default.asp.
              2. All About Pemphigus (Patient Edition)Pemphigus. International Pemphigus & Pemphigoid Foundation. 2016; https://www.pemphigus.org/living-with-pemphigus-pemphigoid/all-about-pemphigus-patient-edition/.
              3. Pemphigus. MayoClinic.com. 2016; https://www.mayoclinic.org/diseases-conditions/pemphigus/home/ovc-20157520?DSECTION=all&p=1.
              4. Pemphigus. MedlinePlus. July 13, 2016; https://www.nlm.nih.gov/medlineplus/pemphigus.html.
              5. Treatments. Pemphigus & Pemphigoid Foundation. 2016; https://www.pemphigus.org/research/clinically-speaking/treatments/.
              6. Pemphigus. Mayo Clinic. August 4, 2017; https://www.mayoclinic.org/diseases-conditions/pemphigus/diagnosis-treatment/drc-20350409.
              7. Tsuruta D, Ishii N, Hashimoto T. Diagnosis and Treatment of Pemphigus. Immunotherapy. 2012; 4(7):735-745. https://www.medscape.com/viewarticle/769843_1.

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