Epidermolysis bullosa

Common Name(s)

Epidermolysis bullosa, EB

Epidermolysis bullosa (EB) is a group of rare genetic conditions. All types of EB cause fragile skin that blisters and tears from friction or trauma. Other parts of the body may be affected. Children with EB may be called “butterfly children” since their skin is extremely delicate. The severity of the EB can range mild to very severe.

Symptoms of this condition may include blisters on the skin as a result of minor injuries; blisters in the mouth or throat, causing difficulty breathing or eating; toenail and fingernail loss; white bumps on the skin; and a thin appearance to the skin. Other symptoms of EB may include anemia, cardiomyopathy, syndactyly (fusion of the fingers and toes), kidney problems, malnourishment, cancer, constipation, osteoporosis, muscular dystrophy and pyloric atresia. EB is diagnosed by a skin biopsy and genetic testing.

There are four types of EB: Simplex, Dystrophic, Junctional, and Kindler. The development of EB is associated with changes (mutations) in many different genes. Some forms of EB are inherited in a dominant manner (where only one copy of a mutated gene is necessary); other forms in a recessive manner (two mutated copies are necessary to develop the condition). There is an autoimmune type of EB as well. Contact a genetic counselor or specialist to understand the genetics of your child’s EB type and for more information about the condition.

Sadly, there is no cure for EB at this time. Treatment options focus on decreasing discomfort and decreasing the risk of developing infections and may include daily wound care, the use of antibiotics to prevent infections, and the use of medications to decrease pain and itchiness. Surgery may sometimes be advised.

If you have a family history of EB, or your child has been diagnosed, contact your doctor or a specialist to discuss the most current treatment options. Support groups are also a great resource for information and support.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis bullosa" for support, advocacy or research.

Dystrophic Epidermolysis Bullosa Research Association

The Dystrophic Epidermolysis Bullosa Research Association (debra) is the only national not-for-profit dedicated to supporting research to find a cure and treatments for eb, while also providing programs and services to those who suffer from this rare and debilitating genetic disease.

Last Updated: 16 Oct 2012

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Pioneering Unique Cures for Kids

Our Vision: Pioneering Unique Cures for Kids envisions a day when there are various treatment options for kids with rare diseases, and no child has to die from these diseases again. Our Mission: By funding and advocating for cutting edge research, Pioneering Unique Cures for Kids helps transform rare, incurable childhood diseases into curable ones, one disease at a time.

Last Updated: 11 Feb 2013

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United Survivors with EB

USeb, a nonprofit corporation organized & run primarily by people with EB. Our mission is to provide services that will assist people with EB in becoming more self-reliant through social, cultural, recreational, rehabilitative, educational, & occupational opportunities. We value self-reliance because it inspires individual productivity, builds self-esteem, stimulates human happiness, and heals the dignity of the soul. These benefits particularly enable people with EB to cope and rise to a position where they can succeed independently, help others to do the same, and contribute to society.

Last Updated: 7 Nov 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

Last Updated: 1 May 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis bullosa" for support, advocacy or research.

Dystrophic Epidermolysis Bullosa Research Association

The Dystrophic Epidermolysis Bullosa Research Association (debra) is the only national not-for-profit dedicated to supporting research to find a cure and treatments for eb, while also providing programs and services to those who suffer from this rare and debilitating genetic disease.

http://www.debra.org

Last Updated: 16 Oct 2012

View Details
Pioneering Unique Cures for Kids

Our Vision: Pioneering Unique Cures for Kids envisions a day when there are various treatment options for kids with rare diseases, and no child has to die from these diseases again. Our Mission: By funding and advocating for cutting edge research, Pioneering Unique Cures for Kids helps transform rare, incurable childhood diseases into curable ones, one disease at a time.

http://www.puckfund.org

Last Updated: 11 Feb 2013

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United Survivors with EB

USeb, a nonprofit corporation organized & run primarily by people with EB. Our mission is to provide services that will assist people with EB in becoming more self-reliant through social, cultural, recreational, rehabilitative, educational, & occupational opportunities. We value self-reliance because it inspires individual productivity, builds self-esteem, stimulates human happiness, and heals the dignity of the soul. These benefits particularly enable people with EB to cope and rise to a position where they can succeed independently, help others to do the same, and contribute to society.

http://www.ebsurvivors.org

Last Updated: 7 Nov 2013

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werathah

To provide support and health education to patients and their families with genetic and congenital disorders

http://www.werathah.com

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Epidermolysis bullosa" returned 564 free, full-text research articles on human participants. First 3 results:

Leg amputation and dystrophic epidermolysis bullosa: A case report with 15 years of follow-up.
 

Author(s): André Thevenon, Marguerite Preud'homme, Philippe Patenotre, Benoit Catteau, Anne Blanchard-Dauphin, Valérie Wieczorek, Vincent Tiffreau

Journal: J Rehabil Med. 2016 Oct;48(9):833-835.

 

Dystrophic epidermolysis bullosa is a rare disease characterized by widespread blistering of the skin and mucous membranes, which may ultimately prompt limb amputation. In this context, the outcome of fitting a prosthesis to a chronically wounded stump is not well known. Our patient's ...

Last Updated: 18 Aug 2016

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Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa.
 

Author(s): Satoru Shinkuma, Zongyou Guo, Angela M Christiano

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2016 May;113(20):5676-81.

 

Genome editing with engineered site-specific endonucleases involves nonhomologous end-joining, leading to reading frame disruption. The approach is applicable to dominant negative disorders, which can be treated simply by knocking out the mutant allele, while leaving the normal allele ...

Last Updated: 18 May 2016

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In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe.
 

Author(s): Katarzyna B Gostyńska, Jeroen Bremer, Krista K van Dijk-Bos, Richard Sinke, Anna Maria G Pasmooij, Marcel F Jonkman

Journal: Acta Derm. Venereol.. 2017 Jan;96(7):105-107.

 

is missing (Short communication).

Last Updated: 3 May 2016

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Epidermolysis bullosa" returned 46 free, full-text review articles on human participants. First 3 results:

Progress toward Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015.
 

Author(s): Jouni Uitto, Leena Bruckner-Tuderman, Angela M Christiano, John A McGrath, Cristina Has, Andrew P South, Brett Kopelan, E Clare Robinson

Journal: J. Invest. Dermatol.. 2016 Feb;136(2):352-8.

 

Epidermolysis bullosa (EB), a group of complex heritable blistering diseases, is the topic of triennial research meetings organized by DEBRA International, Vienna, Austria, the network of national EB patient advocacy organizations. The DEBRA 2015 Research Conference, held in May 2015, ...

Last Updated: 24 Jan 2016

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Epidermolysis Bullosa Acquisita: From Pathophysiology to Novel Therapeutic Options.
 

Author(s): Michael Kasperkiewicz, Christian D Sadik, Katja Bieber, Saleh M Ibrahim, Rudolf A Manz, Enno Schmidt, Detlef Zillikens, Ralf J Ludwig

Journal: J. Invest. Dermatol.. 2016 Jan;136(1):24-33.

 

Epidermolysis bullosa acquisita (EBA) is a prototypic organ-specific autoimmune disease induced by autoantibodies to type VII collagen causing mucocutaneous blisters. In the inflammatory (bullous pemphigoid-like) EBA variant, autoantibody binding is followed by a lesional inflammatory ...

Last Updated: 14 Jan 2016

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Management of digestive lesions associated to congenital epidermolysis bullosa.
 

Author(s): Jamila Chahed, Mongi Mekki, Amine Ksia, Nehla Kechiche, Saida Hidouri, Trimech Monia Youssef, Lassaad Sahnoun, Imed Krichene, Mohsen Belghith, Abdellatif Nouri

Journal: Afr J Paediatr Surg. ;12(4):221-6.

 

Congenital epidermolysis bullosa (CEB) is a rare genodermatosis. The digestive system is very frequently associated with skin manifestations. Pyloric atresia (PA) and oesophageal stenosis (OS) are considered the most serious digestive lesions to occur.The aim of this work is to study ...

Last Updated: 29 Dec 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

ESSENCE Study: Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 7 Feb 2017

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Study to Evaluate the Safety of ALLO-ASC-DFU in the Subjects With Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Dystrophic Epidermolysis Bullosa

 

Last Updated: 1 Jan 2017

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Stem Cell Transplant for Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 7 Dec 2016

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