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

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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.

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

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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 566 free, full-text research articles on human participants. First 3 results:

Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial.
 

Author(s): Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labrèze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer, Jean-Philippe Lacour

Journal:

 

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green tea extract, might improve the phenotype of RDEB patients. In a multicentre, ...

Last Updated: 26 Mar 2016

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Correlation between nutritional, hematological and infectious characteristics and classification of the type of epidermolysis bullosa of patients assisted at the Dermatology Clinic of the Hospital Universitário de Brasília.
 

Author(s): Márcia Carolline dos Santos Sousa, Carmen Dea Ribeiro de Paula, Pedro Luiz Tauil, Izelda Maria Carvalho Costa

Journal: An Bras Dermatol. ;90(6):922-4.

 

Epidermolysis bullosa comprises a group of phenotypically different genodermatosis, hereditary or acquired, characterized by skin fragility and subsequent formation of blisters in response to mechanical trauma, and which may also affect mucous membranes. This study aimed to analyze ...

Last Updated: 7 Jan 2016

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Whole-transcriptome gene expression profiling in an epidermolysis bullosa simplex Dowling-Meara model keratinocyte cell line uncovered novel, potential therapeutic targets and affected pathways.
 

Author(s): Julia Herzog, Raphaela Rid, Martin Wagner, Harald Hundsberger, Andreas Eger, Johann Bauer, Kamil Önder

Journal:

 

To be able to develop effective therapeutics for epidermolysis bullosa simplex (EBS), it is necessary to elucidate the molecular pathomechanisms that give rise to the disease's characteristic severe skin-blistering phenotype.

Last Updated: 15 Dec 2015

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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 43 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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Recessive Dystrophic Epidermolysis Bullosa: Advances in the Laboratory Leading to New Therapies.
 

Author(s): David T Woodley, Mei Chen

Journal: J. Invest. Dermatol.. 2015 Jul;135(7):1705-7.

 

Last Updated: 13 Jun 2015

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Advances in Gene/Cell Therapy in Epidermolysis Bullosa.
 

Author(s): Eva M Murauer, Ulrich Koller, Graziella Pellegrini, Michele De Luca, Johann W Bauer

Journal: Keio J Med. 2015 ;64(2):21-5.

 

In the past few years, substantial preclinical and experimental advances have been made in the treatment of the severe monogenic skin blistering disease epidermolysis bullosa (EB). Promising approaches have been developed in the fields of protein and cell therapies, including allogeneic ...

Last Updated: 29 Jun 2015

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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: 8 Nov 2016

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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: 16 Oct 2015

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Stem Cell Transplant for Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 26 May 2016

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