A Brief Examination of the Skin Condition Dystrophic Epidermolysis Bullosa

A Brief Examination of The Skin Condition Dystrophic Epidermolysis Bullosa

One night while I was clicking through the menu on the digital cable guide I saw a program titled, The Boy Whose Skin Fell Off, filmed by TLC (The Learning Channel). With such an attention grabbing title I couldn't resist. It was a documentary that featured a young man named Jonny Kennedy. Jonny lived in the U.K and was diagnosed with Dystrophic Epidermolysis Bullosa as a young child. The severity of the condition was immediately apparent by the physical condition of the boy. Continuous pain and discomfort was quite obvious and his mother had to constantly care for him by taking care of his wounds and bandages. It took the boy's mother and a nurse to take care of him and the attention he needed was a 24 hour a day job. The devastation EB can have on not only the person suffering from it but the family is enormous. The severity of EB was summed up in one sentence when Jonny says at one point in the program that "he wishes he was never born." For me personally, the most moving thing about the story of this person was even though his health was declining and he knew roughly how long he had to live he didn't loath in pity but rather went out and did his best to experience life and make as many friends as he could. I was amazed at his sense of humor and the way he was able to joke around about the condition that would eventually kill him. He made me realize just how precious life is and how lucky I am. Despite his constant pain and lack of mobility Johnny campaigned to raise money to find a cure for EB right up until his death. The documentary he allowed TLC to film of the last months of his life has raised Ј500,000 and was voted as number six in the Fifty Greatest Documentaries as voted by industry professionals such as respected film makers and journalists.(debra.org.uk) He made it known just how strongly he wanted a cure for other's with his condition because himself and his family knew all too well of its effects. The show ends with his death and funeral but it was not a funeral of complete sadness and mourning. Everyone including himself knew he was going to die soon and they also believed he was going somewhere better. It was sad because you could see that the people in the funeral home had lost a good friend but it was as if they were relieved to see that he was no longer in pain. This story was the motivation for me to research the skin condition EB and more particularly Dystrophic EB. In my paper I will give a general overview of the condition, other health problems that can arise and the care and treatment involved.

There are many different types of epidermolysis bullosa (EB) and one of the most severe forms is dystrophic epidermolysis bullosa (DEB). It is a skin condition that causes blistering of the skin and is inherited in both autosomal dominant and recessive manners. The filaments that anchor the epidermis to the underlying dermis are either absent or do not function. This happens because of defects in the gene for type VII collagen, a fibrous protein that is the main component of the anchoring filaments.(medterms.com) There are dominant and recessive inherited forms of dystrophic epidermolysis bullosa and both have slightly different symptoms. In the less severe dominant form only the feet, hands, elbows, and knees form blisters because of the friction they receive. The soft tissue of the esophagus can be affected also. The most severe form is recessive (RDEB) and blisters not only cover the outer limbs but also large surfaces of the body and loss of nails is common. It also affects more than just the skin, eye inflammation with erosion of the cornea, anemia, blistering and scarring of the G.I tract and mouth, and loss of teeth are common.(niams.nih.gov) Pseudosyndactyly, the fusing of fingers or toes, often occurs. People with the sever form of DEB also have a higher risk of developing squamous cell carcinoma a form of skin cancer.(medterms.com)

DEB is a somewhat rare disease and the current affected population in the US is approximately 12,500 persons. It occurs in all racial and ethnic groups and effects males and females equally. According to a National Epidermolysis Bullosa Registry report, 50 EB cases occur per 1 million live births. Of these cases, approximately 92% are EBS, 5% are DEB, 1% are JEB, and 2% are unclassified. Patients with HEB probably constitute much less than 1% of total EB cases.(emedicine.com) Any form of EB is usually present at birth or in a less severe form may remain undetected until adulthood. Infants born with any type of EB have a high risk of mortality because of complications arising from generalized blistering that can lead to infection and sepsis. The more severe the EB, the higher the mortality rate. For instance patients with Herlitz or letalis form of Junctional EB have a 87% mortality rate during the first year of life. The most common cause of death for patients that survive childhood who have (RDEB) is metastic squamous cell carcinoma and it occurs on average between the ages of 15-35 years of age.(emedicine.com)

Dystrophic epidermolysis bullosa causes more health problems than the obvious blistering of the skin. Dysphagia is often a problem because the mouth can become filled with ulcers and blisters making it difficult to chew and swallow certain types of foods such as crackers. Acidic foods and drinks can irritate ulcers causing a good deal of discomfort. Because of the pain involved with eating, young children can become malnourished and require special attention concerning their diet. "Esophageal stricturing may be experienced by the more severely affected individual. Scarring within the esophagus can reduce the size of the lumen, causing difficulty in the passage of food, even liquids."(debra.org) Esophageal dilation may be required to treat this problem and is done by inserting a small balloon to increase the size of the esophageal opening. When esophageal structuring is so severe that dilation does not work a gastric button device is used to deliver nutrients directly to the person's stomach. Poor ingestion and absorption of blood-building substances along with chronic bleeding due to open wounds and lesions can lead to anemia. Iron supplements are needed to correct the problem.

With the more severe form of EB like recessive dystrophic EB, an individual's mobility can be seriously compromised because of contractures, scarring and syndactyly. Because the hands and feet are the likely to experience friction they also tend to get severe blistering. When