Epidermolysis Bullosa Letalis

Common Name(s)

Epidermolysis Bullosa Letalis, Junctional epidermolysis bullosa gravis of Herlitz

Junctional epidermolysis bullosa is an autosomal recessive skin disorder in which blisters occur at the level of the lamina lucida in the skin basement membrane. {12,11:Fine et al. (2000, 2008)} proposed classification of the different types of JEB into 'Herlitz' and 'non-Herlitz' types based on severity; the Herlitz type is more severe and often results in early death. {12,11:Fine et al. (2000, 2008)} also eliminated the term 'hemidesmosomal,' which had previously been proposed for some forms of JEB ({33:Uitto et al., 1997}). {27:Pulkkinen and Uitto (1999)} reviewed the pathophysiology and phenotypic and genetic heterogeneity of the various forms of epidermolysis bullosa.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis Bullosa Letalis" 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.

Last Updated: 11 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis Bullosa Letalis" 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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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 Letalis" returned 5 free, full-text research articles on human participants. First 3 results:

Blister fluid from epidermolysis bullosa letalis induces dermal-epidermal separation in vitro.
 

Author(s): M Matsumoto, K Hashimoto

Journal: J. Invest. Dermatol.. 1986 Jul;87(1):117-21.

 

Normal human skin was cultured with blister fluid (BF) from 2 patients with epidermolysis bullosa letalis (EB letalis). After 12-24 h incubation, initial separation was observed at the dermal-epidermal junction. Complete separation was seen after 48-72 h incubation. Epidermal and ...

Last Updated: 1 Aug 1986

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Epidermolysis bullosa herdeitaria letalis in northern Sweden.
 

Author(s): L Beckman, A Bergenholtz

Journal: Hereditas. 1975 ;80(2):173-6.

 

Last Updated: 26 Jan 1976

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Inheritance in epidermolysis bullosa letalis.
 

Author(s): H E Cross, R S Wells, J R Esterly

Journal: J. Med. Genet.. 1968 Sep;5(3):189-96.

 

Last Updated: 20 Mar 1969

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

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.