Epidermolysis Bullosa

Common Name(s)

Epidermolysis Bullosa

Epidermolysis bullosa is a group of genetic conditions that cause the skin to be very fragile and to blister easily. Erosions and blisters form in response to minor injury or friction, such as rubbing or scratching. There are four main types of epidermolysis bullosa:

Dystrophic epidermolysis bullosa Epidermolysis bullosa simplex Junctional epidermolysis bullosa Kindler Syndrome

Identifying the exact type is difficult because there are many subtypes for this condition. Most types of epidermolysis bullosa are inherited. The inheritance pattern may be dominant or recessive.   

 

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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How do you compare to others with this condition?

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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

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

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

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Nutritional outcomes in children with epidermolysis bullosa: the experiences of two centers in Korea.
 

Author(s): Kyu-Yeun Kim, Ran Namgung, Soon Min Lee, Soo Chan Kim, Ho Sun Eun, Min Soo Park, Kook In Park, Chul Lee

Journal: Yonsei Med. J.. 2014 Jan;55(1):264-9.

 

Epidermolysis bullosa (EB) is associated with variable risks of extracutaneous manifestations and death. Currently, there is limited information on the clinical course and prognosis of EB in Korea. This study analyzed the nutritional outcomes, clinical morbidity, and mortality of children with EB.

Last Updated: 16 Dec 2013

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Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa.
 

Author(s): Marilina Tampoia, Domenico Bonamonte, Angela Filoni, Lucrezia Garofalo, Maria Grazia Morgese, Luigia Brunetti, Chiara Di Giorgio, Giuseppina Annicchiarico

Journal:

 

Inherited epidermolysis bullosa (EB) is a group of skin diseases characterized by blistering of the skin and mucous membranes.There are four major types of EB (EB simplex, junctional EB, dystrophic EB and Kindler syndrome) caused by different gene mutations. Dystrophic EB is derived ...

Last Updated: 15 Nov 2013

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

Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa.
 

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

Journal:

 

Last Updated: 16 Nov 2012

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Laminin 332 in junctional epidermolysis bullosa.
 

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

Journal: Cell Adh Migr. ;7(1):135-41.

 

Laminin 332 is an essential component of the dermal-epidermal junction, a highly specialized basement membrane zone that attaches the epidermis to the dermis and thereby provides skin integrity and resistance to external mechanical forces. Mutations in the LAMA3, LAMB3 and LAMC2 genes ...

Last Updated: 8 Jan 2013

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Immunofluorescence antigen mapping for hereditary epidermolysis bullosa.
 

Author(s): Raghavendra Rao, Jemima Mellerio, Balbir S Bhogal, Richard Groves

Journal: Indian J Dermatol Venereol Leprol. ;78(6):692-7.

 

Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders that are caused by mutations in the structural proteins in the epidermis or dermoepidermal junction. Characteristic clinical picture is the presence of blisters at trauma prone areas of the body, which develops ...

Last Updated: 18 Oct 2012

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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

Gene Transfer for Recessive Dystrophic Epidermolysis Bullosa
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Dystrophica; Epidermolysis Bullosa

 

Last Updated: 27 Mar 2014

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Study of Inflammatory Mechanisms in Epidermolysis Bullosa Simplex- Dowling Meara
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex Dowling Meara

 

Last Updated: 17 Dec 2012

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Treatment of Dowling Maera Type of Epidermolysis Bullosa Simplex by Oral Erythromycin
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa

 

Last Updated: 13 Oct 2011

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