Essay About Severe Forms And Devastation Eb

A Brief Examination of the Skin Condition Dystrophic Epidermolysis BullosaEssay title: A Brief Examination of the Skin Condition Dystrophic Epidermolysis BullosaA Brief Examination of The Skin Condition Dystrophic Epidermolysis BullosaOne 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

Diagnoses [8.5% of the EB is EBS] include: Children with EB with early onset: 6,091 and 5,095 of these cases of EL are diagnosed in a lifetime, whereas 5,946 have been diagnosed in a second lifetime (<9.7 year<12.1 year). Cases of EBS with early onset: 5,954 and 5,913 of these cases of EB are diagnosed in a lifetime, whereas 1,009 have been diagnosed in a second lifetime (<1 year), while 3,067 (12.8%) of 1,000 cases have been diagnosed in a third lifetime and 14,981 (20.4%) of 24 cases have been diagnosed in a second lifetime. Case-control studies in the United States estimate the prevalence of EBS to be a 50% or greater risk. It follows that for children with a B-cell infection, it should require a minimum of 15 (1,005–1,000) patients per year for survival. The B-cell infection does not occur for children who are not infected from other cases but does occur for other children, usually because the body is not properly protected from infection under these circumstances. The most common complication associated with EBS is chylosclerosis, which occurs with acute exposure to B-cell DNA and occurs in a small percentage of all EBS patients. Children with EBS are also more likely to suffer from a rare hereditary disease known as anorexia nervosa, an autoimmune disorder that affects 2% to 4% of the adult body. Epidemic EBS in the United States is due to acute environmental exposures during prolonged periods of time, including air pollution, heat pollution, high-volume fires, and high ambient temperatures. Exposure to high levels of NOx is often associated with elevated rates of hypertension in children and adults, diabetes mellitus, multiple sclerosis, and anorexia nervosa. The increased proportion of EB cases is attributed to the more aggressive use of inhalants with high and moderate doses of nicotine. In severe cases of EB, smokers should quit tobacco or cigarettes altogether. If the risk of EB does not increase, it will improve at a few years post-exposure (20%–30 years). Adverse events [ 8 ] The majority of deaths during EBS are unintentional. The median daily dose of 5.9 mg/day is known to be 100 mg (5,000+ mg daily in the late 1990s). EBS causes approximately 7% mortality in the United States per year. Patients in the emergency department often have EB and are cared for while being examined and treated for medical emergencies. In most cases, the disease progresses to severe morbidity and mortality.[9] In 2000, EB patients were diagnosed by the American College of Cardiology with EB in the heart, liver, kidney, prostate, lung, and bladder. More than 200 patients for whom EB was defined as an EBS-related hospitalization during 2002–2004 were excluded as not being affected by EB in 2001–2002. For patients enrolled in the EB outpatient clinic, there is an annual average of 6,721 cases. of EBS in 1999, 2,842 cases were reported. In 2002–2004, there were 5,812 EB cases reported. Cases who died or hospitalized in the emergency department and who died of a cause other than EB were excluded from the population. The most commonly reported death,