All the Basic Details About
Epidermolysis Bullosa

We all inherit our physical characteristics such as eye color, hair type, skin tone, and even our tendency to develop particular diseases, from our mother and our father through their genes. Each of these genes provides a coded message that directs our cells to produce one protein. Together, about 30,000 proteins encoded by all of our genes, build our various cells and tissues.

EB is a hereditary disease, one that is caused by defective genes - kind of like a recipe with one altered ingredient that causes the skin to break down. Estimates have ranged from 12,500 to 50,000 Americans who have some form of EB, although some estimates reach 100,000. With Recessive types, the parents have no idea that they are carriers of a defective gene, until they have a child with a genetic condition. Carrier frequency is estimated to be about one in every 400 people in the U.S. population. It could easily happen to you if you plan to bear children, to someone in your family, or to a dear friend - the reality is that there are expecting couples in the United States right now, who will give birth to a baby with EB, and have no such expectation.

All of the genes that cause EB are "autosomal," meaning that the genes are X and Y chromosomes. In the autosomal dominant forms of EB, the disease gene is inherited from only one parent who has the disease, and there is a 50% chance with each pregnancy that the baby will have EB. In autosomal recessive forms of EB, the disease gene is inherited from both parents, and neither of them has to show signs of EB, they may only be "carriers" of the gene and that may have gone on for many generations without knowledge. With this type, there is a 25% chance with each pregnancy that a child will have EB.

Here's some good news: scientists have located the genes and proteins that are defective in EB. They are now looking into ways to repair genes in EB patients, without accidentally activating cancer-causing genes. Although correcting the faulty genes is the primary goal of EB researchers, they are also seeking ways to effectively treat the disease and its often lethal complications.

Now, all of this sounds very scientific, and somewhat dry and unemotional. However, it is easy to forget that our skin is the largest human organ. Our skin acts as a barrier against the harshness of our environment, and it is a truly amazing component of our bodies, utilizing mechanical strength coupled with flexibility. It is also integral to the regulation of our body temperature. These functions are vital to a human's healthy survival. When the skin's health is compromised, the consequences can be serious, even deadly. For someone with EB, infection can be lethal.

That defective EB gene is characterized by a breakdown in the layers of this most important component of our bodies. This results in extremely fragile skin with recurrent, painful blisters and open wounds caused by the slightest rubbing or shearing action. Wounds are similar to third-degree burns, and they do not heal as they would in EB-free individuals; instead, people with EB experience disfiguring scars, disabling musculoskeletal deformities such as contracture of the limbs and mittening of the hands and feet, and internal blistering and scarring. Closure of the esophagus occurs regularly in some EB types, so malnutrition and gastrointestinal tubes for feeding are common.

Normal day-to-day activities that we take for granted, like eating, walking or getting dressed, can be almost intolerable for someone with severe EB. Many have damaged self-esteem; there is a saying that beauty is only skin-deep, but the emotional scars of EB can be as deep as the physical ones. Their bodies are fighting a war against the ravages of this disease, only we have found the weapons of mass destruction, and they come from within!

EB is so rare that many health care practitioners have never heard of it or seen a patient with it. Individuals with EB often feel isolated because of the lack of knowledge about the disease and the impact that it has on the body. And yet, carrier frequency statistics of one in 500 indicate that over 600,000 Americans are "carriers" of a defective EB-causing gene. In our society, the occasional person has heard of "butterfly children," but chances are they've never met one. EB is still poorly understood and under-recognized outside the realm of genetics specialty clinics.

Just imagine being afraid to hug your child, because even if you don't mean to, you may cause serious injury to their skin! Imagine having to spend countless hours bandaging and protecting your child's skin every day. Imagine the cost of the necessary wound care supplies, which in many states are not covered by health insurance - it's a state of national neglect. Imagine the screams of pain and suffering from the trauma of a simple bath. Imagine the significant risk, and constant battle against infection. Imagine knowing that the percentage the EB population compared to EB births is 45%. This is the plight of children with EB, and their families.