Epidermolysis bullosa simplex

Title

Other Names:

Epidermolysis bullosa intraepidermic

Categories:

Skin Diseases

Summary Summary

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.^[2] Treatment plans differ depending on severity but typically focus on preventing formation of blisters, caring for blistered skin, and treating infection.^[3]

Last updated: 7/22/2011

Symptoms Symptoms

The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.

Signs and Symptoms	Approximate number of patients (when available)
Abnormal blistering of the skin	Very frequent (present in 80%-99% of cases)
Abnormality of skin pigmentation	Frequent (present in 30%-79% of cases)
Aplasia/Hypoplasia of the nails	Frequent (present in 30%-79% of cases)
Dystrophic fingernails	Frequent (present in 30%-79% of cases)
Dystrophic toenail	Frequent (present in 30%-79% of cases)
Failure to thrive in infancy	Frequent (present in 30%-79% of cases)
Palmoplantar keratoderma	Frequent (present in 30%-79% of cases)
Pyloric stenosis	Frequent (present in 30%-79% of cases)
Skin ulcer	Frequent (present in 30%-79% of cases)
Atrophic scars	Occasional (present in 5%-29% of cases)
Atypical scarring of skin	Occasional (present in 5%-29% of cases)
Hyperkeratosis	Occasional (present in 5%-29% of cases)
Milia	Occasional (present in 5%-29% of cases)
Neoplasm	Occasional (present in 5%-29% of cases)
Autosomal dominant inheritance	-
Autosomal recessive inheritance	-
Congenital onset	-
Discrete 2 to 5-mm hyper- and hypopigmented macules	-
Growth delay	-
Mottled pigmentation of the trunk and proximal extremities	-
Nail dysplasia	-
Nail dystrophy	-
Neonatal onset	-
Palmoplantar blistering	-
Palmoplantar hyperkeratosis	-
Punctate palmoplantar hyperkeratosis	-
Ridged nail	-
Thick nail	-
Variable expressivity	-

Last updated: 9/1/2017

Inheritance Inheritance

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.^[4]^[5] 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.^[4] 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

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.^[6] Other treatments under investigation for epidermolysis bullosa include protein therapy and gene therapy.^[7]

Last updated: 1/19/2011

Management Guidelines

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.

Do you have updated information on this condition? Let us know.

Research Research

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 studying or have studied 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

The EBCare Registry is a resource for individuals and families affected by all forms of epidermolysis bullosa (EB) and qualified researchers working on approved EB research projects. The Registry itself is a research project and the data collected through the Registry will help characterize the condition of people living with all types of EB.

Organizations 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: 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 (EB) Center
The Epidermolysis Bullosa 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: http://www.cincinnatichildrens.org/svc/alpha/e/epidermolysis-bullosa/
Epidermolysis Bullosa Medical Research Foundation (EBMRF)
2757 Anchor Ave
Los Angeles, CA 90064
Telephone: 310-205-5119
E-mail: a.pett@bep-la.com
Website: http://www.ebkids.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? Send us your suggestions.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

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.

Learn More 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

Genetics Home Reference (GHR) 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

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

News

Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017

Related Diseases Related Diseases

The following diseases are related to Epidermolysis bullosa simplex. If you have a question about any of these diseases, you can contact GARD.

GARD Answers GARD Answers

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

Fine JD. Orphanet Journal of Rare Diseases (OJRD). May 2010; http://www.ojrd.com/content/5/1/12. Accessed 7/6/2011.
Epidermolysis Bullosa Simplex. Genetics Home Reference. April 2007; http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex. Accessed 1/19/2011.
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.
Epidermolysis bullosa simplex. Genetics Home Reference (GHR). May 2013; http://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex.
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.
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.
Kevin Berman. Episdermolysis Bullosa. MedlinePlus. October 31, 2008; http://www.nlm.nih.gov/medlineplus/ency/article/001457.htm. Accessed 1/19/2011.