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Disease Profile
Mucous membrane pemphigoid
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
Adult
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
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Immunological studies reveal the presence of auto-antibodies against several antigens such as PB180, the alpha Laminin-5 subunit and the beta subunit of the integrin alpha-6 beta-4 complex. Histologically, the cutaneous or mucosal blisters are subepithelial, without evidence of acantholysis, and are indistinguishable from those of bullous pemphigoid. Diagnosis can be confirmed by direct or indirect immunofluorescence analysis.
Visit the Orphanet disease page for more information.
|
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
-
American Academy of Oral & Maxillofacial Pathology (AAOMP)
214 North Hale Street
Wheaton, IL 60187
Toll-free: 888-552-2667
Telephone: 630-510-4552
Fax: 630-510-4501
E-mail: [email protected]
Website: https://www.aaomp.org -
American Uveitis Society
Office of the Executive Secretary
700 18th Street South Suite 601
Birmingham, AL 35233
Telephone: +1-205-325-8507
Website: https://uveitissociety.org/ -
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: [email protected]
Website: https://www.pemphigus.org
Social Networking Websites
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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
-
American Autoimmune Related Diseases Association (AARDA)
19176 Hall Road, Suite 130
Clinton Township, MI 48038
Toll-free: 800-598-4668
Telephone: 586-776-3900
Fax: 586-776-3903
E-mail: [email protected]
Website: https://www.aarda.org/
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
- The American Academy of Oral & Maxillofacial Pathology has an information page on this topic. Click on the link above to view this information page.
- DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
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
- 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.
- Pemphigoid. McPherson & Pincus: Henry's Clinical Diagnosis and Management by Laboratory Methods, 21st ed. Pennsylvania: W.B. Saunders Company; 2006;
- 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.