Epidermolysis+bullosa+(EB)

 Epidermolysis bullosa (EB) 

 

**//__What is EB (Epidermolysis Bullosa)?__//**

Epidermolysis Bullosa (EB) is a rare genetic blistering skin disorder, which is caused by a mutation in the keratin or collagen gene.The skin is made up of many different layers. In a person with EB, the fibers or the protein anchors between the layers of the skin do not work properly. Therefore, the slightest friction causes a gap that forms between the layers which then fill with fluid and a blister is formed. Based on this, the name of EB was made. The outer layer is called Epidermis and the inner layers are dermis. “Bullosa” means blister and “lysis” means breakdown.This concludes that Epidermolysis Bullosa is the breakdown and blistering of the epidermis. This disease causes blisters on the skin, but it can also affect the mouth, lungs, muscles, eyes, nails, and teeth. Those blisters may cover 75% of the body that spends so much energy to recover the blisters. Therefore, people who have EB can not do many common activities such as riding a bike, skating, crawling or running that can lead to huge pain and cause chronic sores. Also, these people are usually small, develop their scars and infections more often than normal people. Furthermore, they should eat only soft foods or drink liquids because of blisters in the mouth. Children with this disease are usually described as "Butterfly Children" because their skin is said to be as fragile as a butterfly's wing. media type="youtube" key="Gf1G_7czSfk" height="315" width="420" - This video describes the life of people who have EB

__//**History**//__

In 1886, Kobner discovered Epidermolysis Bullosa by a mult-igeneration affected family with serious blistering and introduced it to the world. This name is still widely used today. Then other famous dermatologists, including Brocq and Hallopeau, continued to research this disease and separated patients to three different groups, which are congenital traumatic pemphigus, congenital traumatic blistering, and acantholsis bullosa. Later, as early as 1908, one major dermatology textbook published in English used the name epidermolysis bullosa and described patients with congenital blistering.


 * //__Symptoms__//**
 * The skin becomes extremely fragile
 * Every people with EB result blisters.
 * Sores on the moth, throat,
 * Thickened skin on the palms of the hands
 * Lost of fingernails/toenails
 * Anemia


 * //__How common is EB?__//**
 * EB is very rare genetic disease.
 * It affects only 20 per 1 million newborn children in United States.
 * There is not exact number how many people with EB are there but estimates that 25,000 - 50,000 people have EB.
 * Both girls and boys can have EB, and the disease affects all races and populations world-wide.


 * //__How EB is inherited?__//**
 * EB is a genetic disorder, so the most important thing is that it is not contagious in any way.
 * It is always inherited.
 * It is passed to a child from the parents' chromosomes.
 * All of the genes that cause EB are autosomal, meaning the genes are X and Y chromosomes.
 * Also, in individuals with EB, some of the genes that should contain the information on how to make the proteins that hold the skin together are missing or incorrect.
 * Autosomal Dominatn Inheritance:**
 * When only one unnatural gene that is able to interrupt the function of the normal gene and cause the disease, is needed to produce disease, then that disease is autosomal dominant.
 * Most forms of EB Simplex and Dominant Dystrophic EB are autosomal dominant.
 * A person with a dominant form of EB can pass the disease onto their children each pregnancy with 50% possibilities.
 * A person who has a dominant form of EB and not has an affected parent then it means a new mutation in the egg or sperm of one parent occurred.
 * Autosomal Recessive Inheritance:**
 * When two unnatural genes are need to produce disease then that disease is autosomal recessive.
 * All forms of Junctional EB and Recessive Dystrophic EB are autosomal recessive.
 * When two carriers who have one unnatural copy of the gene for the disease produce a child then the child will have the disease with 25% possibilities, a 50% chance the child will be a carrier, and the child will have completely normal genes with 25% possibilities.

__//**Forms of EB**//__ **EB simplex**
 * There are three types of EB, all caused by a different genetic mutation: EB simplex (EBS), Junctional EB (JEB) and Dystrophic EB (DEB).

**Junctional EB** **Dystrophic EB**
 * There are many types of EB Simplex
 * Most of them are caused by an autosomal dominant gene mutation.
 * EB Simplex has two main types, Generalized and Localized.
 * In Generalized EB Simplex, blistering occurs all over the body
 * In Localized EB Simplex, blistering occurs in areas that receive the most trauma.
 * Junctional EB is caused by an autosomal recessive gene mutation which codes for collagen17 or laminin-5.
 * There are many types of Junctional EB and all of them cause huge blistering.
 * Some forms of Junctional EB can be improved as the patient gets older because this disease is autosomal recessive.
 * Dystrophic EB is caused by a mutation in the collagen7 gene and can be dominant or recessive.
 * Scarring occurs in both dominant and recessive forms of Dystrophic EB
 * The dominant form of Dystrophic EB generally experiences mild to moderate blistering of the skin.
 * The recessive form of Dystrophic EB is the most severe, chronic type that blisters begin at birth and much of the skin is covered in blisters. Also, it is painfully difficult for a child to eat food due to blisters in the mouth, esophagus, and gastrointestinal tract.

__//**Can EB be treated?**//__

Most of patients with mild forms of EB need only little or no treatment. However, people with sever forms of EB need hours of daily intense care which is usually provided by their families. Blisters are wrapped in bandages or dressings and these are changed daily. Furthermore, the best hope is gene therapy that can take the cells from a person with EB, correct the faulty gene, grow the new "gene corrected" and graft it onto the original EB donor. Also, there are a few bio-engineered skin grafts, such as CCS and Apligraph, that are being used to treat chronic areas of the skin. However, these do not cure the skin in any way. The last thing is a high protein, high calorie diet is necessary to patients of EB.

__//**Benefits/Limitations**//__
 * BENEFITS
 * If it is EB Simplex, which is the most common form of EB, it does not require a lot of treatments.
 * EB children can go into regular classes with the other kids.
 * It made start a procedure called "Preimplantation Genetic Diagnosis" or PGD. The objective is to take out eggs, which are effected by EB or are carriers of the disorder, and then implant only the remaining healthy embryos back in the womb. This gave a hope to parents that are carriers of EB and treatment for a lot of genetic diseases.
 * LIMITATIONS
 * Children cannot do many common activities, such as riding a bike, skating, crawling, and ext.
 * It is really painful when patients take bath.
 * Patients are usually small.
 * There is no exact treatment and prevention.
 * Cannot eat food so patients are not healthy enough.
 * Children with EB are overprotected, therefore, they are hard to get used to the society
 * More possibilities to be infected to other diseases and
 * Patients should take risk when they want to be pregnant.
 * Currently, there is no effective treatment yet.

__//**Factors**//__


 * Economical: This diseases usually begins from the young age. Therefore, parents need to take care and protect them all day long. Furthermore, there is no effective treatment so the parents are only buying creams and bandages to reduce blisters. However, these should be changed daily and they cost a lot of money. For example, there was a baby who had EB, and only just for bandages that can dress the wounds, it cost $1000 per month. Also, there are other treatments and things to manage a child's health and wounds. Therefore, in annual, it costs $77,055, which is really huge amount of money. This can affect the economic of families who have a patient of EB.
 * Social: This disease results blisters that cover 75% of the body. Therefore, children who have EB cannot do many common activiteis, such as crawling, running, skating, and etc. Furthermore, if there are blisters in the mouth, they cannot talk. This makes the children more difficult to get join to the society. Also, usually people exclude those patients because of the wounds.

__//**Works Cited**//__ Debra. “EB in Depth.” //Debra of America//. N.p., n.d. Web. 10 Mar. 2012. . Debra Ireland. “Epidermolysis Bullosa.” //Irishhealth//. N.p., n.d. Web. 10 Mar. 2012. . EBMRF. “What is Epidermolysis Bullosa (EB)?” //Epidermolysis Bullosa Medical Research Foundation//. N.p., n.d. Web. 10 Mar. 2012. . GSDC. “Epidermolysis Bullosa Clinic Frequently Asked Questions.” //Stanford School of Medicine//. N.p., n.d. Web. 10 Mar. 2012. . James, Susan Donaldson. “Epidermolysis Bullosa: Worst Disease You Never Heard Of.” //ABC News//. N.p., n.d. Web. 10 Mar. 2012. . Olinger, Andrea. “What is Epidermolysis Bullosa? .” //EB Info World//. N.p., n.d. Web. 10 Mar. 2012. .