Rare Infectious Disease News
Advertisement
Disease Profile
Epidermolysis bullosa simplex, Dowling-Meara type
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 >
Age of onset
Neonatal
ICD-10
Q81.0
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)
EBS-DM; Dowling-Meara type epidermolysis bullosa simplex; Epidermolysis bullosa herpetiformis, Dowling-Meara type;
Categories
Congenital and Genetic Diseases; Skin Diseases
Summary
Orpha Number: 79396
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 | ||
Nail dystrophy |
Poor nail formation
|
0008404 |
Skin vesicle | 0200037 | |
30%-79% of people have these symptoms | ||
Atrophic scars |
Sunken or indented skin due to damage
|
0001075 |
Milia |
Milk spot
|
0001056 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
5%-29% of people have these symptoms | ||
Constipation | 0002019 | |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypopigmentation of the skin |
Patchy lightened skin
|
0001010 |
Oral mucosal blisters |
Blisters of mouth
|
0200097 |
Squamous |
0006739 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal blistering of the skin |
Blistering, generalized
Blisters
[ more ] |
0008066 |
0000006 | ||
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Nail dysplasia |
Atypical nail growth
|
0002164 |
Neonatal onset | 0003623 | |
Palmoplantar hyperkeratosis |
Thickening of the outer layer of the skin of the palms and soles
|
0000972 |
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.
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
-
DebRA International
Am Heumarkt 27/3
1030 Vienna
Austria
Telephone: +43 1 876 40 30-0
Fax: +43 1 876 40 30-30
E-mail: [email protected]
Website: https://www.debra-international.org/ -
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 Center
The EB Center
Cincinnati Children's Hospital Medical Center
MLD 3004
3333 Burnet Avenue
Cincinnati, OH 45229-3039
Telephone: 513-636-2009
E-mail: [email protected]
Website: https://www.cincinnatichildrens.org/service/e/epidermolysis-bullosa -
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/ -
Genetic Skin Disease Center
Stanford Medical Dermatology Clinic
Stanford Medicine Outpatient Center
450 Broadway
Pavilion B, 4th Floor
Redwood City, CA 94063
Telephone: 650-723-6316
Fax: 650-725-7711
Website: https://dermatology.stanford.edu/contact/
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.
In-Depth Information
- 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 Epidermolysis bullosa simplex, Dowling-Meara type. Click on the link to view a sample search on this topic.