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

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.

Last Updated: 11 Feb 2013

View Details
Logo
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

View Details
werathah

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

Last Updated: 1 May 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

View Details
Logo
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

 
 
 
 
Top

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

Urological surgery in epidermolysis bullosa: tactical planning for surgery and anesthesia.
 

Author(s): Lisieux Eyer de Jesus, Maira Rangel, Ronaldo S Moura-Filho, Glória Novaes, Ada Quattrino, Angelica F Aguas

Journal: Int Braz J Urol. ;40(5):702-7.

 

Epidermolysis bullosa (EB) is characterized by extreme fragility of the skin and mucosae. Anesthetic and surgical techniques have to be adapted to those children and routine practice may not be adequate. Urological problems are relatively common, but surgical techniques adapted to ...

Last Updated: 16 Dec 2014

Go To URL
Treatment of epidermolysis bullosa pruriginosa using systemic and topical agents.
 

Author(s): Aaron R Mangold, Christine M Cole, David J DiCaudo, Mark R Pittelkow, Aleksandar Sekulic

Journal: J. Am. Acad. Dermatol.. 2014 Jun;70(6):e136-7.

 

Last Updated: 16 May 2014

Go To URL
Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa.
 

Author(s): Hiram Larangeira de Almeida, Luciane Monteiro, Ricardo Marques e Silva, Nara Moreira Rocha, Hans Scheffer

Journal: An Bras Dermatol. ;88(6):966-8.

 

In dystrophic epidermolysis bullosa the genetic defect of anchoring fibrils leads to cleavage beneath the basement membrane, with its consequent loss. We performed scanning electron microscopy of an inverted blister roof of a case of dystrophic epidermolysis bullosa, confirmed by ...

Last Updated: 29 Jan 2014

Go To URL

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 34 free, full-text review articles on human participants. First 3 results:

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa.
 

Author(s): May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, Annalisa Ciasulli, Christiane Buisson, Smail Hadj-Rabia, Andrea Diociaiuti, Carolina F Gouveia, Angela Hernández-Martín, Raul de Lucas Laguna, Mateja Dolenc-Voljč, Gianluca Tadini, Guglielmo Salvatori, Cristiana De Ranieri, Stephanie Leclerc-Mercier, Christine Bodemer

Journal:

 

Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin ...

Last Updated: 26 Jul 2014

Go To URL
Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix.
 

Author(s): Jakub Tolar, John E Wagner

Journal: Lancet. 2013 Oct;382(9899):1214-23.

 

Contrary to the prevailing professional opinion of the past few decades, recent experimental and clinical data support the fact that protein replacement therapy by allogeneic blood and marrow transplantation is not limited to freely diffusible molecules such as enzymes, but also large ...

Last Updated: 7 Oct 2013

Go To URL
Disorders of the cutaneous basement membrane zone--the paradigm of epidermolysis bullosa.
 

Author(s): Leena Bruckner-Tuderman, Cristina Has

Journal: Matrix Biol.. 2014 Jan;33():29-34.

 

The cutaneous basement membrane zone (BMZ) is a highly specialized functional complex that provides the skin with structural adhesion and resistance to shearing forces. Its regulatory functions include control of epithelial-mesenchymal interactions under physiological and pathological ...

Last Updated: 24 Feb 2014

Go To URL
 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
Top

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: 11 Feb 2015

Go to URL
Study of Efficacy and Safety of SD-101 Cream in Patients With Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 24 Apr 2015

Go to URL
Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 13 Oct 2011

Go to URL