Epidermolysis Bullosa Simplex, Cockayne-Touraine Type

Common Name(s)

Epidermolysis Bullosa Simplex, Cockayne-Touraine Type

Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet ({15:Pfendner et al., 2005}). The other 2 main types of EBS include the milder generalized Koebner type ({131900}) and the more severe Dowling-Meara type ({131760}). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by {9:Fine et al., 2008}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis Bullosa Simplex, Cockayne-Touraine Type" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

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Research articles describe the outcome of a single study. They are the published results of original research.
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Reviews from the PubMed Database

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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