National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Dystrophic epidermolysis bullosa


Other Names:
DEB; Epidermolysis bullosa dystrophica; Dermolytic epidermolysis bullosa; DEB; Epidermolysis bullosa dystrophica; Dermolytic epidermolysis bullosa; Epidermolysis bullosa, dermolytic See More
Categories:
Subtypes:
This disease is grouped under:
Dystrophic epidermolysis bullosa (DEB) is one of the major forms of epidermolysis bullosa. The signs and symptoms can vary widely among affected people. In mild cases, blistering may primarily affect the hands, feet, knees, and elbows. Severe cases often involve widespread blistering that can lead to vision loss, disfigurement, and other serious medical problems. DEB is caused by changes (mutations) in the COL7A1 gene and may be inherited in an autosomal dominant or autosomal recessive manner depending on the subtype.[1][2] New blisters should be lanced, drained, and protected. Some patients need nutritional support, supplements, occupational therapy and/or surgery depending on the associated features of the disease.[2]
Last updated: 9/29/2015

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 43 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal blistering of the skin
Blistering, generalized
Blisters
[ more ] 		0008066
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin
[ more ] 		0008065
Cheilitis
Inflammation of the lips
0100825
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
30%-79% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] 		0000682
Camptodactyly of finger
Permanent flexion of the finger
0100490
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ] 		0000670
Dysphagia
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] 		0002015
Esophageal stricture
Narrowing of esophagus due to inflammation and scar tissue
0002043
Finger syndactyly 0006101
Flexion contracture of toe 0005830
Furrowed tongue
Grooved tongue
0000221
Gangrene
Death of body tissue due to lack of blood flow or infection
0100758
Hypopigmented skin patches
Patchy loss of skin color
0001053
Laryngeal stenosis 0001602
Milia
Milk spot
0001056
Recurrent skin infections
Skin infections, recurrent
0001581
Toe syndactyly
Fused toes
Webbed toes
[ more ] 		0001770
5%-29% of people have these symptoms
Abnormality of the anus 0004378
Acute constipation 0012451
Anemia
Low number of red blood cells or hemoglobin
0001903
Blepharitis
Inflammation of eyelids
0000498
Chronic otitis media
Chronic infections of the middle ear
0000389
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Corneal erosion
Damage to outer layer of the cornea of the eye
0200020
Dilated cardiomyopathy
Stretched and thinned heart muscle
0001644
Ectropion
Eyelid turned out
0000656
Eczema 0000964
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Glomerulopathy 0100820
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Immunologic hypersensitivity 0100326
Interstitial pulmonary abnormality
Abnormality in area between air sacs in lung
0006530
Nasolacrimal duct obstruction
Blocked tear duct
0000579
Nephrotic syndrome 0000100
Phimosis 0001741
Renal insufficiency
Renal failure
Renal failure in adulthood
[ more ] 		0000083
Scarring 0100699
Squamous cell carcinoma 0002860
Stroke 0001297
Ureteral stenosis
Narrowing of the ureter
0000071
Urinary retention 0000016
Showing of 43 |
Last updated: 7/1/2020

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.

Testing Resources

  • 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.

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management 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.

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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. During the neonatal period and infancy it may also include aplasia cutis congenita, herpes simplex infection, epidermolytic ichthyosis, bullous impetigo, staphylococcal scalded skin syndrome, linear IgA bullous dermatosis, bullous pemphigoid, neonatal pemphigus and pemphigoid gestationis (see these terms). For rare forms of DEB with a late onset, differential diagnosis includes acquired skin disorders such as lichen planus.
Visit the Orphanet disease page for more information.

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 Dystrophic epidermolysis bullosa. 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

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Dystrophic epidermolysis bullosa. 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 Dystrophic epidermolysis bullosa:
    EBCare Registry
     

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 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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Dystrophic epidermolysis bullosa. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • 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.

In-Depth Information

  • 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.
  • 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 Dystrophic epidermolysis bullosa. Click on the link to view a sample search on this topic.

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.

  1. Dystrophic epidermolysis bullosa. Genetics Home Reference (GHR). January 2008; http://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 9/28/2015.
  2. Pfendner EG & Lucky Aw. Dystrophic Epidermolysis Bullosa. GeneReviews. February 26, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1304/.