EB is a rare, genetic disorder, characterized by the presence of extremely fragile skin and recurrent blister formation. Blisters or tears of the skin result from friction or minor trauma. Wearing a diaper is enough to create a blister. EB is caused by an abnormality in one of the proteins found in the skin, whose function is to hold the layers of the skin together. When one of the proteins is absent or diminished the skin becomes fragile. There are three types of EB: Simplex, Dystrophic and Junctional.

The following is adapted from information on ebnurse.org.

EB affects both males and females equally
EB occurs in every racial and ethnic group in the world
EB affects 1 child out of every 50,000 births
That’s 20 new EB people per 1,000,000 births.
From that approximately:
11 will be born with EB Simplex
2 will be born with Junctional EB
6 will be born with Dystrophic EB (2 will be RDEB and 4 will be DDEB)
1 will be unclassified
There are 4 million births per year in the US alone

The psychological needs of the person with EB, as well as those of the family, are considerable. This high-maintenance, painful and often disfiguring disorder is usually a significant source of stress for all involved. Many feel isolated and weighed down by the physical needs of the affected individual. Emotions such as anger, guilt and sorrow are overwhelming. Dealing with the reality of the day is stressful.

There is currently no cure or treatment for any of the subtypes of EB. The only thing you can do is try to prevent blisters from forming by protecting the skin with very special bandages. Typical over-the-counter bandages can’t be used on a person with EB, the adhesive component is enough to rip the skin completely. The DEBRA organization, of which I am on the board of trustees, talks about the treatment and care of a person with EB on their webiste, debra.org.

“Because EB involves many systems of the body, parents and health professionals must take a team approach to the treatment of an EB patient. Intense and total patient care often must be provided, particularly for young children. The severe forms of EB require meticulous nursing care which is similar to that given to burn patients. Much of this care is often provided by the parents; however, the education of all people who have contact with the patient is essential, including the primary care physician, the dermatologist, the nurse, the pediatric dentist, the specialist in gastrointestinal (digestive) diseases, the dietitian or nutritionist, the plastic surgeon, the psychologist or social worker, and the genetic counselor, as well as teachers, relatives, baby sitters, and others……….Although there is no cure for EB, many complications can be lessened or avoided through early intervention. In all cases, treatment of EB is directed towards the symptoms and is largely supportive. This care should focus on prevention of infection, protection of the skin against trauma, attention to nutritional deficiencies and dietary complications, minimization of deformities and contractures, and the need for psychological support for the entire family. Many persons with milder forms have minimal symptoms and may require little or no treatment”.

While we list general information about the subtypes of EB, this is by no means complete. For a complete discussion of the three main EB subtypes, their respective subtypes, and the manifestations of each, go to www.debra.org.

EB Simplex is caused by a mutation in the Keratin 5 or Keratin 14 gene. These are the genes that govern the formation of the proteins in the top layer of the skin, the epidermis. The result is incorrectly formed keratins which cannot perform their intended function: to hold the top layer of skin together. As the skin splits apart, a blister is formed

Junctional EB is caused by a mutation in one of the following genes: Lamimin-5, Collagen XVII, α6β4 (alpha6, beta4) Integrin. These genes contribute to forming the structural components of the skin known as hemidesmosones and anchoring filaments

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.