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Epidermolysis bullosa simplex


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Other Names:
Epidermolysis bullosa intraepidermic
Categories:
Skin Diseases
Subtypes:
Epidermolysa bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysa bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with mottled pigmentation; Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, generalized; Epidermolysis bullosa simplex, localized; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa, lethal acantholytic See More
This disease is grouped under:
Epidermolysis bullosa

Summary Summary


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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). [1] Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by mutations in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases.[2913] Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.[2]
Last updated: 7/22/2011

Symptoms Symptoms


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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 30 |
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
30%-79% of people have these symptoms
Abnormality of skin pigmentation
Abnormal pigmentation
Abnormal skin color
Abnormal skin pigmentation
Abnormality of pigmentation
Pigmentary changes
Pigmentary skin changes
Pigmentation anomaly
[ more ]
0001000
Aplasia/Hypoplasia of the nails
Absent/small nails
Absent/underdeveloped nails
[ more ]
0008386
Dystrophic fingernails
Poor fingernail formation
0008391
Dystrophic toenail
Poor toenail formation
0001810
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ]
0001531
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Pyloric stenosis 0002021
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Atrophic scars
Sunken or indented skin due to damage
0001075
Atypical scarring of skin
Atypical scarring
0000987
Hyperkeratosis 0000962
Milia
Milk spot
0001056
Neoplasm 0002664
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Congenital onset
Symptoms present at birth
0003577
Discrete 2 to 5-mm hyper- and hypopigmented macules 0007494
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ]
0001510
Mottled pigmentation of the trunk and proximal extremities 0007438
Nail dysplasia
Atypical nail growth
0002164
Nail dystrophy
Poor nail formation
0008404
Neonatal onset 0003623
Onychogryposis
Thick nail
Thickened nails
[ more ]
0001805
Oral mucosal blisters
Blisters of mouth
0200097
Palmoplantar blistering 0007446
Palmoplantar hyperkeratosis
Thickening of the outer layer of the skin of the palms and soles
0000972
Punctate palmoplantar hyperkeratosis 0007530
Ridged nail
Grooved nails
Nail ridging
[ more ]
0001807
Variable expressivity 0003828
Showing of 30 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance


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Epidermolysis bullosa simplex (EBS) is usually inherited in an autosomal dominant pattern, which means one copy of the altered (mutated) gene in each cell is sufficient to cause the condition. The mutated gene may be inherited from an affected parent, or it may occur for the first time in the affected individual.[3][4] When an individual affected with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated gene and be affected.

In rare cases, EBS is inherited in an autosomal recessive pattern. Autosomal recessive inheritance means the condition results when both copies of the gene in each cell have a mutation (one copy inherited from each parent). The parents of an individual with an autosomal recessive condition typically each carry one copy of the mutated gene and are referred to as carriers. Carriers are typically unaffected and do not have signs or symptoms of the condition.[3] When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% risk to not have the condition and not be a carrier.

Affected individuals or family members who are unsure of the inheritance pattern of EBS in their family and are interested in learning more about this should consult with a genetics professional.

Last updated: 8/7/2012

Treatment Treatment


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There is no cure for any of the types of epidermolysis bullosa simplex (EBS). Treatment of EBS typically involves supportive care to protect the skin from blistering, and the use of dressings that will not further damage the skin and will promote healing. Prevention of blisters may involve applying aluminum chloride to palms and soles to reduce blister formation; cyproheptadine may be used to reduce blistering in some individuals with the Dowling-Meara type of EBS. Keratolytics and softening agents for hyperkeratosis (thickening of the skin) of the palms and soles may prevent tissue from thickening and cracking. Prevention of secondary complications (such as infection of blisters) may involve treatment with topical and/or systemic antibiotics or silver-impregnated dressings or gels. Appropriate footwear and physical therapy may preserve ambulation in children with difficulty walking because of blistering and hyperkeratosis. Surveillance is recommended for infection and proper wound healing. Avoiding excessive heat, poorly fitting or coarse-textured clothing and footwear, and activities that traumatize the skin is typically recommended.[5] Other treatments under investigation for epidermolysis bullosa include protein therapy and gene therapy.[6]
Last updated: 1/19/2011

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.

Find a Specialist Find a Specialist


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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

  • The Dystrophic Epidermolysis Bullosa Research Association of America, Inc. (DEBRA) offers a National Physician Referral Service that connects people suffering with epidermolysis bullosa to qualified and knowledgeable health care professionals in their communities. Click on the link above to learn more about this and other services offered by the DEBRA.

Related Diseases Related Diseases


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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.

Research Research


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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 Epidermolysis bullosa simplex. 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 Epidermolysis bullosa simplex. 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 Epidermolysis bullosa simplex:
    EBCare Registry
     

Organizations Organizations


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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: office@debra-international.org
    Website: http://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: staff@debra.org
    Website: http://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: ebcenter@cchmc.org
    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: a.pett@bep-la.com
    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: http://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.
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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 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.

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.
  • 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. 
    http://www.ncbi.nlm.nih.gov/omim/131800
    http://www.ncbi.nlm.nih.gov/omim/131900
    http://www.ncbi.nlm.nih.gov/omim/131760
    http://www.ncbi.nlm.nih.gov/omim/131960
    http://www.ncbi.nlm.nih.gov/omim/601001
  • 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.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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. Submit a new question

  • Is it possible for me to have a child? I believe I can get pregnant but with the skin condition and everything I didn't know if I could carry the child or give birth. Also, what are the chances that my child would inherit what I have? See answer

  • My 1.5 year old daughter has epidermolysis bullosa simplex with mottled pigmentation. Is this disease curable? What treatment is available, and how might I find out if specific treatments may be available where I live? See answer


Have a question? Contact a GARD Information Specialist.

References References


  1. Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010; http://www.ojrd.com/content/5/1/12. Accessed 7/6/2011.
  2. Epidermolysis Bullosa. National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). 2013; http://www.niams.nih.gov/Health_Info/Epidermolysis_Bullosa/default.asp#6.
  3. Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
  4. EB Simplex: Koebner Subtype of EB Simplex. Dystrophic Epidermolysis Bullosa Research Association of America (DebRA). http://www.debra.org/simplex#koebner. Accessed 6/10/2015.
  5. Ellen G Pfendner and Anna L Bruckner. Epidemolysis Bullosa Simplex. GeneReviews. August 11, 2008; http://www.ncbi.nlm.nih.gov/books/NBK1369/. Accessed 1/19/2011.
  6. Kevin Berman. Episdermolysis Bullosa. MedlinePlus. October 31, 2008; http://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/19/2011.
Do you know of a review article? We want to hear from you.
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