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Disease Profile

Mucous membrane pemphigoid

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

N/A

US Estimated

N/A

Europe Estimated

Age of onset

Adult

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ICD-10

L12.1

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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Other names (AKA)

Benign mucosal pemphigoid; Benign mucous membrane pemphigoid; Cicatricial pemphigoid disease

Categories

Skin Diseases

Summary

Mucous membrane pemphigoid is a rare, chronic, blistering and scarring disease that affects the oral and ocular mucosa. Other mucosal sites that might be affected include the nasopharnyx, larynx, genitalia, rectum, and esophagus. The condition usually begins in late adulthood (e.g. 50's or 60's), affects more women than men, and has a variable prognosis.[1] Scarring of the affected mucosa of the eye may lead to blindness and tends to be the most feared complication.[2] A combination of environmental and genetic factors appear to play a role in the susceptibility of developing cicatricial pemphigoid.[1] Although the specific causes of this condition have not been identified, it is considered an autoimmune disease that is characterized by the production of autoantibodies against basement membrane zone antigens such as BP180, BP230, and laminin 5.[2][3] Treatment is dependent on the person's specific 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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Autoimmunity
Autoimmune disease
Autoimmune disorder

[ more ]

0002960
Oral mucosal blisters
Blisters of mouth
0200097
30%-79% of people have these symptoms
Atypical scarring of skin
Atypical scarring
0000987
Gingivitis
Inflamed gums
Red and swollen gums

[ more ]

0000230
5%-29% of people have these symptoms
Blindness
0000618
Corneal opacity
0007957

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

          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.
          • 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 Mucous membrane pemphigoid. Click on the link to view a sample search on this topic.

            References

            1. Bruch-Gerharz D, Hertl M, Ruzicka T. Mucous membrane pemphigoid: clinical aspects, immunopathological features and therapy. Eur J Dermatol. 2007 May-Jun; 17(3):191-200. https://www.ncbi.nlm.nih.gov/pubmed/?term=Bruch-Gerharz+D%2C+Hertl+M%2C+Ruzicka+T+2007. Accessed 11/14/2014.
            2. Pemphigoid. McPherson & Pincus: Henry's Clinical Diagnosis and Management by Laboratory Methods, 21st ed. Pennsylvania: W.B. Saunders Company; 2006;
            3. Torchia D, Caproni M, Volpi W, Fabbri P. Naturally occurring regulatory T cells in mucous membrane pemphigoid lesions. Acta Dermatoven APA. 2009 Mar; 18(1):3-6. https://s3-eu-west-1.amazonaws.com/thejournalhub/10.15570/archive/acta-apa-09-1/1.pdf. Accessed 11/14/2014.