Overview: What is Epidermolysis Bullosa

The information in this section has been gathered from existing peer-reviewed and other literature and has been reviewed by expert dermatologists on the CSPA Medical Advisory Board.

Epidermolysis Bullosa (EB) involves a clinically and genetically diverse class of rare, inherited skin diseases that can cause the skin to blister and erode very easily. It can occur in both children and adults at any age, but usually begins in infancy or childhood. The incidence rate of EB is approximately 20 per million live births each year. EB affects both sexes equally and it is more common amongst the Korean/Asian populations along with African-Americans.

The human skin has many layers, which are held together with a wide variety of proteins that act like an adhesive glue. In EB, these proteins are either missing or short in supply. This allows for skin breakdown and damage when friction is applied against the surface of the skin. EB is caused by the genetic mutation of at least 20 genes which are necessary to develop these important proteins needed to maintain the structural integrity of the skin.

There are four types of EB, classified on a combination of the depth of the blister formation. These four categories are:

  • Epidermolysis bullosa simplex: This is the most common variant of EB. It is the mildest form of EB, usually limited to the hands and feet. When friction is applied to the skin, the skin will split open causing blisters to form on the very top layer of the skin (epidermis).
  • Junctional epidermolysis bullosa: The level of the skin that the blister can affect in junctional EB is the middle layer of the skin. This is a deeper level wound than in EB simplex.
  • Dystrophic epidermolysis bullosa: In dystrophic EB, the skin is most fragile in the deepest layer or dermis. It is called “dystrophic” as it refers to the scarring of the skin that is noticed once the blister and erosions heal.
  • Kindler Syndrome: This form of EB presents at birth or in early infancy. In addition to skin blistering, the skin of these patients is very sensitive to the sun.