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
Who are the top Epidermolysis Bullosa Simplex Local Doctors?
MC
Margarita R. Calvo
Elite
Highly rated in
4
conditions

Pontificia Universidad Católica De Chile

Facultad De Medicina, 
Santiago, RM, CL 

Margarita Calvo practices in Santiago, Chile. 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 top areas of expertise are Epidermolysis Bullosa Simplex, Neuralgia, Epidermolysis Bullosa, and Dystrophic Epidermolysis Bullosa.

RE
Rudiger Eming
Distinguished
Highly rated in
11
conditions

Philipps Universität Marburg

Marburg An Der Lahn, HE, DE 

Rudiger Eming practices in Marburg An Der Lahn, Germany. Eming is rated as a Distinguished expert by MediFind in the treatment of Epidermolysis Bullosa Simplex. They are also highly rated in 11 other conditions, according to our data. Their top areas of expertise are Pemphigus Vulgaris, Pemphigus, Pemphigus Foliaceus, and Epidermolysis Bullosa Simplex.

 
 
 
 
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IF
Ignacia Fuentes
Distinguished
Highly rated in
7
conditions

Fundación DEBRA Chile

Santiago, RM, CL 

Ignacia Fuentes practices in Santiago, Chile. Fuentes is rated as a Distinguished expert by MediFind in the treatment of Epidermolysis Bullosa Simplex. She is also highly rated in 7 other conditions, according to our data. Her top areas of expertise are Epidermolysis Bullosa Simplex, Epidermolysis Bullosa, Dystrophic Epidermolysis Bullosa, and Junctional Epidermolysis Bullosa.

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Who are the sources who wrote this article ?

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

What are the Latest Advances for Epidermolysis Bullosa Simplex?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.