Epidermolysis Bullosa Simplex with Mottled Pigmentation

Common Name(s)

Epidermolysis Bullosa Simplex with Mottled Pigmentation

Epidermolysis bullosa simplex with mottled pigmentation is a rare form of epidermolysis bullosa (EB). EB 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. In EB simplex with mottled pigmentation, blistering may begin at birth. People with this condition have a mottled appearance of their skin (ie., darker and lighter colored spots of skin). Their skin may seem to age more quickly and bruise easily.  EB simplex with mottled pigmentation is caused by a mutation in the keratin-5 gene (KRT5) and is inherited in an autosomal dominant fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epidermolysis Bullosa Simplex with Mottled Pigmentation" 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

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 Simplex with Mottled Pigmentation" 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 Simplex with Mottled Pigmentation" 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.