Epidermolysis bullosa simplex, generalized

Common Name(s)

Epidermolysis bullosa simplex, generalized

Epidermolysis bullosa simplex, Koebner type is a form of generalized epidermolysis bullosa simplex. This disorder usually presents at birth or during infancy and results in widespread blisters over the body's surface. Though it is not a common feature of this type, scarring may occur. There may also be mild involvement of mucous membranes, fingernails and toenails, and localized thickening of the skin on the soles of the feet and the palms of the hands that increases with age.  All four major types of epidermolysis bullosa simplex, including the Koebner type, are caused by mutations in the KRT5 and KRT14 genes.  This condition is usually inherited in an autosomal dominant fashion.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis bullosa simplex, generalized" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Using Topical Sirolimus 2% for Patients With Epidermolysis Bullous Simplex (EBS) Study
 

Status: Recruiting

Condition Summary: Epidermolysis Bullosa Simplex; Epidermolysis Bullosa Simplex Kobner; Weber-Cockayne Syndrome

 

Last Updated: 22 Oct 2017

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