Epidermolysis Bullosa, Junctional

Common Name(s)

Epidermolysis Bullosa, Junctional

Junctional epidermolysis bullosa (JEB) is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.  JEB is separated into two categories: the Herlitz type and the Non-Herlitz type. The Herlitz type of JEB is very severe, and individuals with this condition often do not survive infancy. The Non-Herlitz type includes several subtypes that cause mild to severe blistering of the skin present at birth or shortly thereafter.   JEB is inherited in an autosomal recessive pattern. It is caused by mutations in the LAMB3, COL17A1, or LAMC2, and LAMA3 genes.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

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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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, Junctional" returned 0 free, full-text research articles on human participants.

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, Junctional" returned 0 free, full-text review articles on human participants.

 
 
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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

Last Updated: 11 Apr 2014

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