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Generalized Epidermolysis Bullosa Simplex

Last updated June 22, 2020

Approved by: Maulik P. Purohit MD, MPH

Epidermolysis Bullosa (EB) is a group of disorders in which there is blister formation in the skin and or mucosal membranes after minimal trauma. It is usually inherited (passed on to children).


The topic Generalized Epidermolysis Bullosa Simplex you are seeking is a synonym, or alternative name, or is closely related to the medical condition Epidermolysis Bullosa (EB).

Quick Summary:

  • Epidermolysis Bullosa (EB) is a group of disorders in which there is blister formation in the skin and or mucosal membranes after minimal trauma. It is usually inherited (passed on to children)
  • In Epidermolysis Bullosa, mutations of the genes encoding proteins (that bind the 3 skin layers) is defective or nonfunctional, which leads to skin fragility. Hence, a minor injury, such as friction or rubbing, can separate the skin layers easily, resulting in painful skin tearing or blistering
  • EB is not a preventable condition. However, blistering and complications can be prevented to a certain extent. There are many forms of Epidermolysis Bullosa
  • There is also no cure for EB. The treatment offered is symptomatic including blister wound care, use of painkillers, nutritional support, and supportive care
  • The prognosis depends on the type of Epidermolysis Bullosa. Junctional EB individuals usually die within the first year. Other minor types of EB can expect to live normal lives with appropriate care

Many types of Epidermolysis Bullosa have been identified; of which, 3 are major types. These include:

  • Epidermolysis Bullosa Simplex:
    • It is the most common type, accounting for over 90% of EB individuals (in the US)
    • The condition is inherited in an autosomal dominant manner
    • It is milder compared to other EB types, and usually no scarring is seen
    • Separation involves the epidermis of the skin
    • The mutated genes encode proteins Keratin 5, Keratin 15, and Plectin
    • It is usually present at birth or during infancy
    • The condition commonly affects the palms of the hands and soles of the feet
  • Dystrophic Epidermolysis Bullosa:
    • It can be inherited in an autosomal dominant or autosomal recessive manner. Recessive inheritance is more severe
    • The mutated genes encode proteins Collagen (type VII)
    • It can be mild to severe in presentation
    • Separation involves the upper dermis of the skin          
  • Junctional Epidermolysis Bullosa:
    • It is the most severe form of EB
    • Separation involves the junction of epidermis and skin
    • The mutated genes encode proteins Plectin, Laminin 332, and a6b4 Integrin
    • The condition presents itself at birth          
  • Epidermolysis Bullosa Acquisita is an acquired form of EB. It is a rare condition that is considered to occur due to autoimmune mechanisms (when the body immunity fights against its own tissues)

Please find comprehensive information on Epidermolysis Bullosa (EB) regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: June 15, 2017
Last updated: June 22, 2020