Epidermolysis Bullosa Simplex
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Epidermolysis Bullosa Simplex Overview

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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.
What are the alternative names for Epidermolysis Bullosa Simplex?
  • Epidermolysis bullosa simplex
  • Epidermolysis bullosa intraepidermic
Who are the top Epidermolysis Bullosa Simplex Local Doctors?
Elite in Epidermolysis Bullosa Simplex
Margarita R. Calvo
Elite in Epidermolysis Bullosa Simplex
Margarita R. Calvo
Santiago, RM, CL 

Margarita Calvo practices practicing medicine in Santiago, Chile. Ms. Calvo is rated as an Elite expert by MediFind in the treatment of Epidermolysis Bullosa Simplex. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Epidermolysis Bullosa Simplex, Neuralgia, Epidermolysis Bullosa, and Dystrophic Epidermolysis Bullosa.

Distinguished in Epidermolysis Bullosa Simplex
Marcelo E. Ezquer
Distinguished in Epidermolysis Bullosa Simplex
Marcelo E. Ezquer
Avenida Plaza 680, 
Santiago, RM, CL 

Marcelo Ezquer practices practicing medicine in Santiago, Chile. Mr. Ezquer is rated as a Distinguished expert by MediFind in the treatment of Epidermolysis Bullosa Simplex. He is also highly rated in 1 other condition, according to our data. His clinical expertise encompasses Epidermolysis Bullosa Simplex, Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa, and Diabetic Neuropathy.

 
 
 
 
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Distinguished in Epidermolysis Bullosa Simplex
Ignacia Fuentes
Distinguished in Epidermolysis Bullosa Simplex
Ignacia Fuentes
Santiago, RM, CL 

Ignacia Fuentes practices practicing medicine in Santiago, Chile. Ms. Fuentes is rated as a Distinguished expert by MediFind in the treatment of Epidermolysis Bullosa Simplex. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, Epidermolysis Bullosa Simplex, and Junctional Epidermolysis Bullosa.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center