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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • Dominant dystrophic epidermolysis bullosa, generalized
  • DDEB, generalized
  • DDEB-gen
  • Epidermolysis bullosa dystrophica, autosomal dominant
  • Dystrophic epidermolysis bullosa, autosomal dominant
  • Epidermolysis bullosa dystrophica, Cockayne-Touraine type (formerly)
  • Epidermolysis bullosa dystrophica, Pasini type (formerly)
Home > Rare Diseases and Related Terms > Generalized dominant dystrophic epidermolysis bullosa



Generalized dominant dystrophic epidermolysis bullosa
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Generalized dominant dystrophic epidermolysis bullosa (GDDEB) is a type of epidermolysis bullosa (EB), which is a group of rare inherited conditions in which the skin blisters extremely easily. GDDEB is one of the milder forms of EB, although the severity is variable. Blisters may be present at birth, but typically appear during early childhood; occasionally they do not develop until later in life. Blisters often become more numerous and tend to occur over vulnerable sites such as knees, ankles, elbows and knuckles.[2] In adulthood, they usually become less frequent and scars fade. Other signs and symptoms of GDDEB may include dystrophic or absent nails,[3] constipation, dental caries and swallowing problems.[2] It is caused by mutations in the COL7A1 gene and is inherited in an autosomal dominant manner.[1] Treatment typically includes treating blisters and avoiding infection.[2]


References
  1. Dystrophic epidermolysis bullosa. Genetics Home Reference. January 2008 Available at: http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed March 4, 2011.
  2. H. M. Horn. Dominant dystrophic epidermolysis bullosa. DebRA International. 2003 Available at: http://www.debra-international.org/old/pib2.htm. Accessed March 5, 2011.
  3. M Peter Marinkovich. Epidermolysis bullosa. eMedicine. June 22, 2010 Available at: http://emedicine.medscape.com/article/1062939-overview. Accessed March 5, 2011.
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More Detailed Information (Found 9 resources)
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  • General

    • Genetics Home Reference (GHR) contains information on Generalized dominant dystrophic epidermolysis bullosa. Click on the link to go to GHR and review the information.
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • 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) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Generalized dominant dystrophic epidermolysis bullosa. Click on the link to go to OMIM and review these resources.
    • Orphanet is a database dedicated to information on rare diseases and orphan drugs.  Access to this database is free of charge.  Click on the link to read information on this topic.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Generalized dominant dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.
  • Management Guidelines

    • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 9 resources)
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  • Organizations Providing General Support

  • Social Networking Websites

    • DNAandU.org is a Web site and blog that collects firsthand stories from people facing issues, making tough decisions, and using genomic (DNA) information in their own healthcare.  Click on the link to learn from their experiences and/or submit your own story.

    • Madisons Foundation
      P.O. Box 241956
      Los Angeles, CA 90024
      Telephone: 310-264-0826
      Fax: 310-264-4766
      E-mail: getinfo@madisonsfoundation.org  
      Web site: http://www.madisonsfoundation.org/  
    • RareConnect is an online social network for patients and families to connect with one another and share their experience living with a rare disease. The project is a joint collaboration between EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders). Click on the link above to view the community for Epidermolysis bullosa.
    • RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders.
 Healthcare Professional Online Directory | Testing | Parent Resources
Services (Found 5 resources)
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    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Healthcare Professional Online Directory

  • Testing

    • GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
    • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 3 resources)
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  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • IPCC 2009 Symposium: Planning for Effective Delivery of Nucleic Acids to Skin, May 5, 2009 - May 6, 2009
      Description: Conference organizers hoped that the 2009 IPCC scientific meeting would result in an effective plan for more patient-friendly and effective delivery to skin. The results of the symposium will be immediately applied to clinical trials and studies with patients.
 
Clinical Trials & Research (Found 2 resources)
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    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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