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Debra is dedicated to finding a cure for EB, which affects 1 out of every 50,000 live births in the United States today. EB is a genetically based disease characterized by chronic, painful blistering. The skin and mucous membranes are so fragile that the slightest touch can cause severe blistering inside and outside the body.

Present at birth, EB affects men and women of all races and ethnic groups and sometimes, when there is no family history, it occurs as the result of a spontaneous genetic mutation. Today, there is no cure or treatment for EB, except daily wound care and bandaging. Genetic research is making progress towards treatments and a cure.

About EB

Epidermolysis Bullosa (EB)

Epidermolysis Bullosa (EB) is a rare genetic skin disorder that causes the skin to be so fragile that the slightest friction can cause severe blistering—inside and outside the body. Today there is no cure. Severe forms of EB cause patients to live with constant pain and scarring. The worst forms of EB lead to eventual disfigurement, disability and often early death.There are many patients who are diagnosed with milder forms, which, while they can be extremely difficult to live with, are non-disfiguring and non-lethal.

The only treatment for EB is daily wound care and bandaging. The daily routine is a grueling, multi-faceted daily regimen. Caregivers, often parents or family members of EB children, must work in tandem with medical professionals to determine and administer different treatment methods to care for EB wounds.

With skin as fragile as a butterfly wing, EB patients are dubbed “Butterfly Children”. On the outside physical wounds prevent them from normal daily activities enjoyed by other children. On the inside, their dreams are the same as any child who loves, plays, learns and grows despite the pain and impediment caused by their disease.

Types of EB

Junctional EB
Through research it is now known that mutations in the genes encoding alpha 6, beta 4 integrin, collagen XVII or one of the three chains of Laminin 5 contribute to defects in the formation of hemidesmosomes or anchoring filaments.

Defects within any of those components of the skin allows for the separation of tissue and blister formation whenever there is friction or trauma to an area. In many instances blistering can occur spontaneously.

There are three major sub-types of Junctional EB. Herlitz, non-Herlitz and Junctional EB with associated Pyloric Atresia. Though Junctional EB is considered a non-scarring form of EB, tightening and thinning of the skin does occur. In many instances residual atrophic scarring occurs.

Dystrophic EB
Through research it is now known that the genes that carry the instructions necessary to produce the proteins in the basement membrane zone of the skin, are faulty. This results in incorrectly formed anchoring fibrils, deeming them unable to perform their normal role as a ‘stable interweave’ between the dermal and epidermal layers of the skin.

Mutation (a change in the genetic material) occurs within the collagen VII gene, which encodes the protein of the anchoring fibril. Anchoring fibrils hold together the two layers of skin. As a result, there is a lack of adherence and disruption of the skin when any friction or trauma occurs to an area. Where the two layers separate there is a blister. Blistering in the various types of dystrophic EB causes scarring.
There are two major types of DEB:
  • Dominant Dystrophic Epidermolysis Bullosa
  • Recessive Dystrophic Epidermolysis Bullosa
EB Simplex
Through research it is now known that the genes that carry the instructions necessary to produce the proteins in the top layer (keratins) are faulty. This results in incorrectly formed keratins, deeming them unable to perform their normal role as a ‘scaffolding’ for the top most layer of skin. It appears as though there is a mutation (a change in the genetic material) within Keratin genes K5 or its partner K14. So as a result, the top layer of skin falls apart, resulting in a blister. Although EB Simplex is considered a non-scarring form of EB, secondary infection may cause scarring.