EPIDERMIS BULLOSA

What is Epidermolysis Bullosa and what does it mean?
Epidermolysis Bullosa, or EB for short, is the name given to a group of rare genetic blistering skin disorders.
EB causes the skin to be so fragile that even minor rubbing can cause blistering. In severe EB, daily bandage changing is required to treat the many open wounds and blisters. EB can also effect other areas such as the eyes and internally such as the mouth, esophagus, stomach, intestines, upper airway, bladder, and genitals.
How common is Epidermolysis Bullosa?
It is estimated that about 10,000 Americans have some form of EB. Of these, less than 300 have the same form of EB that I was born with. (Recessive Dystrophic - Hallopeau Siemens Epidermolysis Bullosa.) Only one in a million babies are born with the Recessive Dystrophic form of EB (RDEB). I prefer to say I'm one in a million :o) EB occurs in all racial and ethnic groups and effects males and females equally.
What causes Epidermolysis Bullosa?
Most people with EB have inherited the condition through genes they have received from one or both parents. The faulty genes cause structural abnormalities in the skin. Genes govern the formation of different types of protein in the skin, including collagen and keratin. When any of these proteins is bad, the skin becomes so fragile it can literally fall apart.
How is Epidermolysis Bullosa inherited?
Some forms of EB are dominant, some are recessive and some are spontaneous mutations (abnormal changes in a gene that occurred during the formation of the egg or sperm) In 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 the baby will have EB. In the recessive forms, the disease gene is inherited from both parents. Neither parent shows signs of the disease, they are just carriers of the EB gene. There is a 25% chance with each pregnancy that the baby will have EB. The severity of EB has a wide range. One form goes away after one year of age, others cause death at birth, some only effect the hands and feet while others need lengthy daily bandage changes due to the constant blisters and large burn-like wounds.
RDEB is considered one of the most severe forms. The structural weakness in the skin is in a deeper layer resulting in deep sores and extreme scarring. The skin is so fragile it can blister or sluff off from slight friction resulting in large blisters and wounds all over the body. The blisters need to be cut and drained or else they continue to grow. The sores need antibiotics and constant bandaging. (Please refer to my EB Medical Care web page for more information on caring for an EB patient) Most RDEB patients are practically bandaged head to toe. Many need wheelchairs because walking is too painful and tiring. This is also true with many of the Simplex varieties of EB because they effect the feet so greatly.
When most people hear the word blister they think they know what it's like to have EB, however EB blisters are generally much much larger and often times much more painful. In severe cases the wounds can become extremely large. The scarring is similar to that of a burn victim. Blisters can arise from everyday actions such as scratching an itch, friction from clothing, wearing glasses, bumping into someone etc. There is often spontaneous blistering as well.
Other symptoms of RDEB include:
*Severe scarring causing the fingers to fuse to the palm in the shape of a fist. This is called "webbing". This also effects feet and toes. Webbing can even cause the feet and hands to fuse into a bent position and the inability to stretch the legs and arms completely. Scarring in the esophagus causes it to become very narrow. This is due to the fact that scar tissue does not grow like normal skin. It continues to build up and create stricturing.
*Permanent loss of finger and toe nails at a young age. Blistering under the nails causes them to fall off and scarring causes them to never grow back.
*Severe Itching. When sores heal they tend to itch more. They also itch more if they are infected. With so many sores constantly trying to heal it causes constant itches and tingles. Scratching of course causes a lot more damage to the skin and unfortunately there are not many medicines that reduce the itching without also causing you to be very drowsy.
*Malnutrition. This is caused because of anemia and because most of the nutrients taken into the body goes toward healing the many open wounds and disrupts the growth of organs. It is also believed most RDEB patients can not easily absorb nutrients. It is also hard to eat due to blistering in the esophagus and mouth. This means only soft foods can be eaten. RDEB patients
often "choke" because food gets easily caught in their throat. Although RDEB does not effect the airway, so I have never actually had trouble breathing while food is stuck in my throat.
*Severe problems with teeth. I have had to have all my teeth pulled due to severe tooth decay. Oral hygiene in severe forms of EB can be very difficult. Dentures are not an option due to the fragility of the gums.
*Blisters in the eyes and Corneal Abrasions can be extremely painful. I have not had any eye blisters since I was a baby, however my eyes do dry out and get corneal abrasions very easily. This causes scarring over the eye and may impair vision.
*Anemia. Often times RDEB patients have Anemia as a result of inflammation, malnutrition and iron deficiency.
*Squamous Cell Carcinoma, a skin cancer that is fairly common in RDEB patients over the age of 20. If caught early, this cancer can be removed fairly easily, however there are no big signs to warn you. Unfortunately this is what takes many of the lives of RDEB patients.
Can Epidermolysis Bullosa be cured or treated?
There is currently no cure for EB. At this time the best hope is gene therapy. In 1993 the gene that causes Dystrophic EB was located. That was the first major step. More advances are being made every year giving much hope for the future. Scientists are currently testing the delivery of modified cells to genetically altered mice that have EB traits. The goal is to eventually be able to take the cells from a person with EB, correct the faulty gene, grow the new "gene corrected" healthy skin in the lab, and graft it onto the original EB donor.
Is Epidermolysis Bullosa contagious?
EB is a genetic disorder and is not at all contagious.
Is Epidermolysis Bullosa lethal?
There are currently only two types of EB that are considered lethal. The first is Junctional Herlitz, which is often deadly to newborns. Junctional Herlitz effects internally, including the airway and other internal organs causing major complications. Many with this form pass away within a few weeks of birth.
The other form is RDEB-HS (the kind I have). Most with RDEB-HS do not live past their 30's due to severe malnutrition (which can cause heart failure), a skin cancer called Squamous Cell Carcinoma and severe infection. There are also other forms of EB that can be very severe at birth however tend to get better with age. RDEB is considered to get worse with age however, due to the constant breakdown of the skin and severe scarring.