Epidermolysis bullosa is a group of rare inherited skin diseases that are characterized by the development of blisters following minimal pressure to the skin. Blistering often appears in infancy in response to simply being held or handled. In rarer forms of the disorder, EB can be life threatening. Patients have given the nickname butterfly children, because their skin is as fragile as a butterflies wings. There is no cure for the disorder. Treatment focuses on preventing and treating wounds and infection.
I wish to inform and spread awareness of EB. I will cover four topics: First what causes EB. Second what are the side effects of EB. Third well look at some case studies. Fourth well see if its curable.
First let’s see what causes EB. EB is a genetic disease, so that means it’s passed down from the parents. EB can be inherited as he result of a dominant genetic abnormality (one parent has the gene). Or a recessive genetic abnormality( both parents have it).
Second: side effects of Epidermolysis Bullosa. The type of tissue that makes up skin is called epithelial tissue. Epithelial tissue is found anywhere you have skin plus other parts of the body like mouth, throat, esophagus, and lungs. Within epithelial tissue is a substance called collagen. Collagen keeps the skin tight and perky. Many people inject themselves with artificial collagen to keep the skin from sagging. The children born with the EB disease do not have the right levels of collagen in their skin. When their skin encounters friction there is no collagen to keep it from blistering or shearing off.
Keep in mind a blister is a raised area of the skin that has detached from the deeper dermis. Since epithelial tissue is also found in parts of the mouth and throat, eating can be very difficult. Most EB patients have to go to a strict liquid diet to keep from blistering their esophagus. xi. Hands are one of the most affected areas by EB. Imagine if gripping your pencil firmly caused your fingers to blister. In extreme cases, when the fingers heal, they can fuse together. xiv. Sometimes the hands get so bad it’s just better to amputate.
Third: Baby Easton was born august 23rd, 2012 at auburn memorial hospital and immediately his parents knew something was wrong. He was missing skin on most of his limbs, and was covered in deep red open wounds. He came out screaming violently, and his weak five pound, fifteen ounce body was shaking because of the pain. He was later Diagnosed with EB. An estimated 30,000-50,000 people have epidermolysis bullosa in the United States according to the Office of Rare Disease Research, national institutes of Health.
Rafi Kopelan is 15 years old and has a more severe form of the condition. She has had 5 surgeries to keep scar tissue from blocking her throat and bone marrow transplants to help her cells make the protein it needs to keep skin anchored in place. Keep in mind she is in middle school, where kids are picked on for having acne. Also just two weeks ago a family with child who had EB filed a lawsuit against a Golden Corral restaurant in Michigan. According to the complaint, the restaurant owners approached the family and asked what was “wrong” with the Baby.
Although the child’s mother explained the condition, the owner said the condition was obviously a “contagious” disease and told the family to go find somewhere else to eat. d. Fourth: is EB curable? Currently there is no cure for EB. The most important treatment for EB is daily wound care. Extra care must be taken so redressing wounds does not further the damage. Tape can never be used and bandages should be soaked off. v. Infection is a major concern due to all the open wounds. Topical antibiotics are used to fight off any infections. In some cases bone marrow transplants can increase collagen levels but this is rare and the procedure is expensive.
In conclusion, we covered different aspects of epidermolysis Bullosa. I have covered what causes EB. What the side effects are. We looked at some case studies. And we looked into treatments. At times it was really hard to see these kids in such discomfort. I have no comprehension for that level of pain. But I felt it was important to raise awareness of the disease and share these kids’ stories.
