Epidermolysis Bullosa (EB)

                               
                            
         Epidermolysis Bullosa (EB)

                    


Epidermolysis Bullosa (EB) is a rare genetic connective tissue disorder that generally presents at birth with missing and/or blistered skin. Mucous membranes are often affected and can, in some types, also present airway and other internal involvement.  EB affects tissue both internally and externally and presents itself in 1 in 50,000 live births.  This genetic skin disorder does not discriminate between ethnicity or gender. No form of EB is contagious.


This blog is for anyone with any form of Epidermolysis Bullosa as well as family, caretakers, friends of those with EB and all who wish to learn about EB and help spread awareness.  My goal is to offer information about EB, wound care products and other supplies, as well as helpful tips from myself and others with EB.   

There are 4 main types of EB and many subtypes within those main types, each of which are caused by a mutation in different proteins within the genetic structure.  Below are the 4 main types and a few of the more common subtypes.

1) Junctional: Considered the most severe, and rare, of all types of EB.  Below are the main sub types of JEB.
  
   - Non Herlitz 
     - Herlitz
   - With Pyloric Atresia
   - Inversa

2) Dystrophic and Dominant Dystrophic: Considered to be milder forms of EB while Recessive Dystrophic, a sub type of Dystrophic, has many sub types which can be moderate to extremely severe in presentation.  Below are the sub types of Dystrophic along with the sub types of each form of Dystrophic.
   
   - Recessive Dystrophic
       - Hallopeau Siemens
       - Non Hallopeau Siemens
       - Inversa 

    -Dominant Dystrophic
     

3) Simplex: Considered to be the most common form of EB it has many sub types that range from mild to extremely severe.  While EB will never 'go away' some sub types of Simplex can become milder in presentation as the patient grows older.  Below are the most common subtypes of EBS.
    
    - Dowling Meara
    - With Pyloric Atresia
    - Weber Cockayne
    - Koebner's
    - With Muscular Dystrophy

4) Kindler Syndrome: A rare form of EB which is caused by a mutation in the Kindling -1 gene.

There is one form of EB that is not inherited but is an autoimmune disorder.  It is called Epidermolysis Bullosa Aquisita and generally appears later in life. EBA is not contagious.

I hope you find this information helpful and I appreciate any feedback or other information, products or tips that you think should be mentioned or you find helpful.  
I would like to thank everyone who volunteered information.  I greatly appreciate your contribution : )  I have not included names or personal information from contributors in an effort to protect everyone’s privacy.  If you would like recognition for your entry I am happy to do so, just let me know : )  Thanks for being a part of this project and for being such strong and beautiful people!

Some information regarding types/sub types were found at http://www.ebnurse.org