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Disease Profile
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.
1-9 / 1 000 000
Age of onset
Infancy
ICD-10
Q81.2
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)
DEB; Epidermolysis bullosa dystrophica; Dermolytic epidermolysis bullosa;
Categories
Skin Diseases
Summary
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 (
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 | ||
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 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Esophageal stricture |
Narrowing of esophagus due to inflammation and scar tissue
|
0002043 |
Finger |
0006101 | |
Flexion |
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 | ||
Abnormal pulmonary Interstitial morphology |
Abnormality in area between air sacs in lung
|
0006530 |
Abnormality of the anus | 0004378 | |
Acute constipation | 0012451 | |
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 |
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 | |
Nasolacrimal duct obstruction |
Blocked tear duct
|
0000579 |
Nephrotic |
0000100 | |
Phimosis | 0001741 | |
Renal insufficiency |
Renal failure
Renal failure in adulthood
[ more ] |
0000083 |
Scarring | 0100699 | |
Squamous |
0002860 | |
Stroke | 0001297 | |
Ureteral stenosis |
Narrowing of the ureter
|
0000071 |
Urinary retention | 0000016 |
Diagnosis
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.
Treatment
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.
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
|
---|
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.
|
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
-
Dystrophic Epidermolysis Bullosa Research Association of America (DEBRA of America)
75 Broad Street
Suite 300
New York, NY 10004
Toll-free: 855-CURE-4-EB
Telephone: 212-868-1573
Fax: 212-868-9296
E-mail: [email protected]
Website: https://www.debra.org -
Epidermolysis Bullosa Medical Research Foundation (EBMRF)
2757 Anchor Ave
Los Angeles, CA 90064
Telephone: +1-310-205-5119
E-mail: [email protected]
Website: https://ebmrf.org/
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.
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
- 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 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.
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.
References
- Dystrophic epidermolysis bullosa. Genetics Home Reference (GHR). January 2008; https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa. Accessed 9/28/2015.
- Pfendner EG & Lucky Aw. Dystrophic Epidermolysis Bullosa. GeneReviews. February 26, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1304/.