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Mucous membrane pemphigoid


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Other Names:
Benign mucosal pemphigoid; Benign mucous membrane pemphigoid; Cicatricial pemphigoid disease
Categories:
Skin Diseases

Summary Summary


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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.
Last updated: 11/14/2014

Symptoms Symptoms


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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.

Showing of 6 |
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
Showing of 6 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Related Diseases Related Diseases


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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
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.

Research Research


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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 related to Mucous membrane pemphigoid. 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.

Patient Registry

  • The Autoimmune Registry supports research for Mucous membrane pemphigoid by collecting information about patients with this and other autoimmune diseases. You can join the registry to share your information with researchers and receive updates about participating in new research studies. Learn more about registries.
  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Mucous membrane pemphigoid. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Mucous membrane pemphigoid:
    International Pemphigus & Pemphigoid Foundation Natural History Registry
     

Organizations Organizations


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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: aaomp@b-online.com
    Website: http://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: 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).

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: aarda@aarda.org
    Website: https://www.aarda.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References 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. http://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. http://s3-eu-west-1.amazonaws.com/thejournalhub/10.15570/archive/acta-apa-09-1/1.pdf. Accessed 11/14/2014.
Do you know of a review article? We want to hear from you.
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