A Brief Examination of The Skin Condition Dystrophic Epidermolysis Bullosa

Total words: 1736

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 £500,000 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 the blisters eventually heal scarring of the skin is left and a condition called syndactyly (fusing of the fingers and toes can occur). In its severity walking and the use of a persons hands is lost. Also contributing to the loss of function is contractures (shortening of the skin). Contractures can happen to the hands, feet or the joints of the knees and hips. When the use of a joint is lost muscle atrophy develops. With such serious medical conditions associated with DEB vigilant patient care is essential for that persons survival.

As of now there is no cure for EB so the only option is to control and heal the patients current condition. Treatment is symptomatic and the primary goal is to protect the skin, stop blister formation and promote healing without creating complications. Because EB can affect so many different parts of the body, a team of medical specialists is usually required for overall care. Oral and topical medications will most likely be prescribed by a doctor to assist in the healing process or prevent complications. In cases of severe EB, care and treatment will increase because of the patients need for constant attention. Recommendations often include measures to avoid skin trauma and to avoid high environmental temperatures. The use of soft clothing and bedding materials such as sheepskin is best because it does not cause much friction against the skin. Excellent skin care is required, blistered areas often become crusted or denuded making them open wounds very susceptible to infection.(ehendrick.org) Wound healing procedures may include regular whirlpool therapy and application of topical antibiotics to these wound-like areas.(emedicine.com) If dysphasia is a problem the use of oral steroids for short periods of time may be prescribed. Periodontal disease is common so good dental hygiene is very important to lessen the likelihood of cavities or the loss of teeth. With the more sever forms of EB like (RDEB) a diet with increased, vitamin, mineral, calorie and protein intake may be necessary in the production of cells and recovery of the body. Working with a physical therapist can help maintain the range of motion of involved joint areas and minimize contractures.(ehendrick.org)

When wounds and blisters refuse to heal, skin grafting may be needed to start the healing process and production of new skin cells. Other treatments under investigation for epidermolysis bullosa include protein and gene therapy. Epidermolysis bullosa acquisita may be treated with oral steroids and medication that suppresses the immune system. These may, however, increase the risk of secondary infection, particularly the latter drug category. Studies using interferon are also underway.(ehendrick.org)

Any form of epidermolysis bullosa is a lifelong disease with some forms being more serious than others. In the case of dystrophic epidermolysis bullosa your life is cut short and it consists of chronic pain and suffering. Jonny Kennedy was able to overcome his physical setbacks in order to make his voice heard in an effort to raise money for a cure. He is a true testament to human will and hope because of his ability to put others before himself despite his severe physical condition. I believe he succeeded in making people more aware of EB because when I see epidermolysis bullosa I will think of him.

Works Cited
Weiner, Madeline. About Epidermolysis Bullosa. 17 March. 2003 Dystrophic Epidermolysis Bullosa Research Association. 04 Nov. 2005
The Boy Whose Skin Fell Off. 18 Nov 2005.Epidermolysis Bullosa Research Association UK. 05 Nov. 2005
Epidermolysis bullosa 22 Oct. 2004. Treatment. 04 Nov. 2005.

Marinkovich, Peter MD. Epidermolysis Bullosa. 07 Feb. 2005. E Medicine. 02 Nov 2005.
Definition of Epidermolysis bullosa. 04 Oct. 2003. Medicine Net. 04 Nov. 2005.

Questions and Answers about Epidermolysis Bullosa. June. 2005. National Institute of Arthritis and Musculoskeletal and Skin Diseases. 02 Nov. 2005.

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