Dominant dystrophic epidermolysis bullosa
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.
Age of Onset
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.
X-linked 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.
Other Names (AKA)
Dominant dystrophic epidermolysis bullosa, generalized; DDEB, generalized; DDEB-gen;
Congenital and Genetic Diseases; Skin Diseases
Dominant dystrophic epidermolysis bullosa (DDEB) is a type of epidermolysis bullosa (EB), which is a group of rare
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||
|30%-79% of people have these symptoms|
Poor toenail formation
|5%-29% of people have these symptoms|
Sunken or indented skin due to damage
Poor fingernail formation
|Erosion of oral mucosa||0031446|
|Oral mucosal blisters||
Blisters of mouth
|Recurrent loss of toenails and fingernails||
Recurrent shedding of toenails and fingernails
|Percent of people who have these symptoms is not available through HPO|
|Abnormal blistering of the skin||
[ more ]
Symptoms present at birth
Atypical nail growth
Poor nail formation
Type VII collagen plays an important role in strengthening and stabilizing the skin. It is the main component of structures called anchoring fibrils, which anchor the top layer of skin, called the epidermis, to an underlying layer called the dermis.
COL7A1 mutations alter the structure or disrupt the production of type VII collagen, which impairs its ability to help connect the epidermis to the dermis. When type VII collagen is abnormal or missing, friction or other minor trauma can cause the two skin layers to separate. This separation leads to the formation of blisters, which can cause extensive scarring as they heal.
A diagram of the skin structure including the area of skin implicated in DDEB is provided by the National Institute of
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- 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.
Wound care usually included treatment of new blisters by lancing and draining. Additionally in most cases, wounds are then dressed with a non-adherent material, covered with padding for stability and protection, and secured with an elastic wrap for integrity. Due to the increased risk of bacterial resistance, topical
Individuals with epidermolysis bullosa (EB) have increased caloric and
Surveillance is important for individuals with DEB.
- Use of biological dressings to treat chronic or recurrent skin ulcers
Bone marrow transplantation
- Intra-dermal (in the skin) injection of
- Protein replacement therapy (intra-dermal injection of type VII collagen)
- Revertant mosaicism
Genecorrection technologies (ex. CRISPR)
DEBRA International has developed clinical practice guidelines for different aspects of treating EB including wound care and pain management. Click on the link to see their completed guidelines.
- DebRA International has developed clinical practice guidelines for epidermolysis bullosa which provide recommendations for clinical care. These clinical guidelines are for patients as well as healthcare professionals.
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
The differential diagnosis includes other forms of EB. In the neonatal period aplasia cutis congenita, herpes simplex infection, bullous impetigo, incontinentia pigmenti, linear IgA bullous dermatosis, bullous pemphigoid (see these terms) may need to be considered.
Visit the Orphanet disease page for more information.
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.
Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
75 Broad Street
New York, NY 10004
Epidermolysis Bullosa Center
The EB Center
Cincinnati Children's Hospital Medical Center
3333 Burnet Avenue
Cincinnati, OH 45229-3039
Epidermolysis Bullosa Medical Research Foundation (EBMRF)
2757 Anchor Ave
Los Angeles, CA 90064
- 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.
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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Dominant dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.
- 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) 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.
- 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.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Dominant dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.
- Dystrophic EB. DebRA of America. https://www.debra.org/dystrophic. Accessed 4/7/2016.
- M Peter Marinkovich. Epidermolysis bullosa. Medscape. January 8, 2014; https://emedicine.medscape.com/article/1062939-overview.
- Dystrophic epidermolysis bullosa. Genetics Home Reference. January 2008; https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa.
- Pfendner EG & Lucky Aw. Dystrophic Epidermolysis Bullosa. GeneReviews. February 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1304/.
- Satoru Shinkuma. Dystrophic epidermolysis bullosa: a review. Clin Cosmet Investig Dermatol. 2015; 8:275-284. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451851/.
- Dystrophic epidermolysis bullosa. Genetics Home Refernce. January 2008; https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 1/31/2014.
- Questions and Answers about Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases. November 2013; https://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/.
- Dystrophic Epidermolysis Bullosa. Gene Reviews. February 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1304/.
- Jouni Uitto, Leena Bruckner-Tuderman, Angela M. Christiano , John A. McGrath, Cristina Has, Andrew P. South, Brett Kopelan, E. Clare Robinson. Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of DEBRA International Research Symposium EB2015. Journal of Investigative Dermatology. 2016; 136:352-358. https://www.ncbi.nlm.nih.gov/pubmed/26802230.