Learn About Epidermolysis Bullosa Simplex

What is the definition of Epidermolysis Bullosa Simplex?
Epidermolysis bullosa simplex (EBS) is one of the major forms of epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. Symptoms of EBS range from mild in the Weber-Cockayne type to severe with blistering that is present at birth or after. Milder phenotypes of EBS have blistering confined to the limbs, whereas in the most severe Dowling Meara type, blisters may also form in the mouth. All of the types are typically caused by genetic changes in the KRT5 and KRT14 genes. They are usually inherited in an autosomal dominant pattern, but autosomal recessive inheritance has occurred in rare cases.
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What are the alternative names for Epidermolysis Bullosa Simplex?
  • Epidermolysis bullosa simplex
  • Epidermolysis bullosa intraepidermic
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

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