Epidermolysis bullosa simplex
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)
Epidermolysis bullosa intraepidermic
Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. EBS is classified into two groups of subtypes by the layer of skin at which the peeling originates. The basal subtypes cause skin peeling at the lower layers of the epidermis. The most common basal subtypes include EBS localized, Dowling Meara EBS, Generalized other EBS and EBS with muscular dystrophy. More rarely seen basal subtypes include EBS with mottled pigmentation, EBS with pyloic atreseia, EBS Ogna, and EBS circinate migratory.The suprabasal subtypes cause skin peeling at the upper layers of the epidermis and include the rare forms known as Lethal acantolythic EB, Plakophilin deficiency, and EBS superficialis (EBSS).  Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder
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||
|80%-99% of people have these symptoms|
|Abnormal blistering of the skin||
[ more ]
|30%-79% of people have these symptoms|
|Abnormality of skin pigmentation||
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary skin changes
[ more ]
|Aplasia/Hypoplasia of the nails||
[ more ]
Poor fingernail formation
Poor toenail formation
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy
[ more ]
Thickening of palms and soles
Open skin sore
|5%-29% of people have these symptoms|
Sunken or indented skin due to damage
|Atypical scarring of skin||
|Percent of people who have these symptoms is not available through HPO|
Symptoms present at birth
|Discrete 2 to 5-mm hyperand hypopigmented macules||0007494|
[ more ]
|Mottled pigmentation of the trunk and proximal extremities||0007438|
Atypical nail growth
Poor nail formation
[ more ]
|Oral mucosal blisters||
Blisters of mouth
Thickening of the outer layer of the skin of the palms and soles
|Punctate palmoplantar hyperkeratosis||0007530|
[ more ]
- 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
Diagnosis is usually straightforward with little need for extensive differential diagnosis. However, in the neonatal period, in utero herpes simplex infection may be considered, especially if there is no family history of blistering disease or if clinical findings are atypical for EB. The differential diagnosis in neonates and small children may include congenital aplasia cutis, neonatal pemphigus, neonatal herpes gestationis, staphylococcal scalded skin syndrome, as well as incontinentia pigmenti, epidermolytic ichthyosis, linear IgA dermatosis, bullous pemphigoid, and bullous impetigo (see these terms).
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 Genetics contains information on Epidermolysis bullosa simplex. 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.
- 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. Click on the link to view a sample search on this topic.
- Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010; https://www.ojrd.com/content/5/1/12. Accessed 7/6/2011.
- Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2013; https://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp#6.
- Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
- EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). https://www.debra.org/simplex#koebner. Accessed 6/10/2015.
- Ellen G Pfendner and Anna L Bruckner. Epidemolysis Bullosa Simplex. GeneReviews. August 11, 2008; https://www.ncbi.nlm.nih.gov/books/NBK1369/. Accessed 1/19/2011.
- Kevin Berman. Episdermolysis Bullosa. MedlinePlus. October 31, 2008; https://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/19/2011.