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

View Details
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 544 free, full-text research articles on human participants. First 3 results:

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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Proinflammatory Cytokines and Antiskin Autoantibodies in Patients With Inherited Epidermolysis Bullosa.
 

Author(s): Giuseppina Annicchiarico, Maria Grazia Morgese, Susanna Esposito, Giuseppe Lopalco, Michele Lattarulo, Marilina Tampoia, Domenico Bonamonte, Luigia Brunetti, Antonio Vitale, Giovanni Lapadula, Luca Cantarini, Florenzo Iannone

Journal: Medicine (Baltimore). 2015 Oct;94(42):e1528.

 

Epidermolysis bullosa (EB) is a rare disorder characterized by inherited skin adhesion defects with abnormal disruption of the epidermal-dermal junction in response to mechanical trauma. Our aim was to investigate a set of cytokine levels in serum samples from patients suffering from ...

Last Updated: 27 Oct 2015

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Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa.
 

Author(s): Stephen A Watt, Jasbani H S Dayal, Sheila Wright, Megan Riddle, Celine Pourreyron, James R McMillan, Roy M Kimble, Marco Prisco, Ulrike Gartner, Emma Warbrick, W H Irwin McLean, Irene M Leigh, John A McGrath, Julio C Salas-Alanis, Jakub Tolar, Andrew P South

Journal:

 

Recessive dystrophic epidermolysis bullosa (RDEB) is caused by mutations in COL7A1 resulting in reduced or absent type VII collagen, aberrant anchoring fibril formation and subsequent dermal-epidermal fragility. Here, we identify a significant decrease in PLOD3 expression and its ...

Last Updated: 19 Sep 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 41 free, full-text review articles on human participants. First 3 results:

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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Nutritional aspects of children and adolescents with epidermolysis bullosa: literature review.
 

Author(s): Ana Paula Caio Zidorio, Eliane Said Dutra, Dryelle Oliveira Dias Leão, Izelda Maria Carvalho Costa

Journal: An Bras Dermatol. ;90(2):217-23.

 

Epidermolysis Bullosa is a genetic disorder that affects mainly the skin, however, all others systems are influenced. The nutritional care of children and adolescents with Epidermolysis Bullosa is a key treatment strategy, since the energy needs are increased due to the disease's ...

Last Updated: 2 Apr 2015

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From marrow to matrix: novel gene and cell therapies for epidermolysis bullosa.
 

Author(s): Beau R Webber, Jakub Tolar

Journal: Mol. Ther.. 2015 Jun;23(6):987-92.

 

Epidermolysis bullosa encompasses a group of inherited connective tissue disorders that range from mild to lethal. There is no cure, and current treatment is limited to palliative care that is largely ineffective in treating the systemic, life-threatening pathology associated with ...

Last Updated: 29 May 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

Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa

 

Last Updated: 17 Mar 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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Study of Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 9 Jun 2016

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