Pictures of EB

Caution! These pictures are very graphic. They are not pretty. If you think you will have a issue with them, do not look at them. They are very bloody.

EB: an in-depth discussion

Epidermolysis Bullosa has six main subcategories: Simplex, Junctional, Dystrophic, Acquista, Ogna, and Hemidesmosomal. Simplex is the least severe, and Dyostrophic is the most severe common type and it can cause death. EB in any form is extremely rare, with only about 10,000 cases in the U.S. and even less throughout the world. The Ogna and Acquista branches have even fewer cases than any of the other types. Most people get it as babies, which lowers their chance for survival. However, less severe EB can appear later in adults. Below is a chart of the most common three types and their subcategories as well as the proteins or genes that cause it. Many parents pass it along to their children unwittingly, and they pick it up. The symptoms can range from being mild blistering and bleeding that is uncomfortable to live with, but you stay alive, and then it can also cause such severe blistering and bleeding that it can kill an infant within a year of being born. The symptoms are as follows, varying because of the multiple types of EB:

• Blistering around nose and eyes and in mouth and in throat


• Feeding and Breathing difficulties


• Millia (tiny white bumps)


• Alopecia (hair loss)


• tooth decay


• nail loss

For EB Acquisita, other symptoms can be bowel inflammation and lupus, an autoimmune disorder which affects the skin, kidneys, and other organs.\

The causes for the three main types are as follows:

EB Simplex {mutations of}

• Weber-Cockayne- krt 5 and krt 14


• Koebner- krt 5 and krt 14


• Dowling-Meara-krt 5 and krt 14


• Mottled Pigmentation-plectin and krt 5


• Ogna-separate gene-plectin


• Acquisita-autoimmune disorder-body attacks own fibrils with antibodies

JEB

• caused by defects in lamina 5, lamina 6, and collagen XVII, which are all cohesive proteins for the skin


• Lethal JEB-defect in expression of lamina 5 (glycoprotein); participates in keratinocyte adhesion and migration

DEB

• defects in type VII collagen


• RDEB-increased synthesis of collagenase;worse


• DDEB-increase of Glycosaminoglycan levels affects depostion of fibrils

Hemidesmosomal EB

• mutation in plectin HD1/defect in A4B4 integrin

Severe EB- can be accentuated by decreased lymphocyte production

• All EB cases are inherited from parents, whether they know it or not. Most cases are autosomal dominant inheritance, but in some rare ones, such as with dystrophic, it is inherited autosomal recessive.


• The following link is to show a clinical feature of EBS. http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=gene.chapter.ebs

Diagnoses-

Doctors used to do skin biopsies, where they test the skin based on what they have seen. More doctors today use genetic testing (taking a swab and getting cheek cells), and microscopic skin sample testing. They can also perform blood tests for anemia to see if there is a correlation between the anemia and poorly healing wounds, which might indicate Epidermolysis Bullosa. If there are swallowing or feeding difficulties, then they can perform an upper endoscopy (they stick a camera down your throat and examine the esophagus and the stomach for signs of EB; they then can do biopsies based on tiny tissue sample observations). They also can perform a GI upper series, where you swallow barium. They then use a flouroscope to see the X-rays given off by the barium to determine if you have EB.

In general, they follow growth curves studiously, and test range of motion for contractures (the skin pulls together and limits mobility). Their accuracy is surprisingly good. However, even though the diagnoses are dependable, the treatments really aren't.

Treatment options: All you could do back before the 1990s to help EB was to bandage affected areas to prevent more scar tissue to occur over wounds. In general, the best treatment is prevention. Kids or people with EB have to limit movement and can't run around. They also have to be careful about the clothing that they wear. If it is too tight or too loose, the effects can be very painful. Padding sensitive areas is also necessary. To minimize internal EB in the mouth and throat, good dental hygiene is strongly recommended. Also, they must get the proper nutrition to be able to heal faster. Oatmeal baths help soothe the pain, but plain water increases the pain. EB sufferers live a life of torment that the rest of us can't imagine. However, new technological advances have led scientists to experimenting with gene therapy. They haven't perfected it yet to the point of being practical, but they will get it hopefully soon so we can end the occurence of this awful disease. Counseling is advised for the sufferer and their family so they have a constructive outlet to deal with this disease. Group therapy also helps as well. Once you have EB, there is no getting rid of it. It is stuck with you. You are most likely to get worse throughout your life. There is no cure. In some rare cases, some people improve a little bit over there lives.

If you would like to support the EB awareness and research you can go to EB Info World and donate to them. If you would like to read a book about a person's struggle with EB, I recommend Jonny Kennedy by Roger Stutter. It is the memoir about a man who struggled with this until he died of skin cancer at age 36. If you would like to meet families who struggle with this disorder or if you want to learn more about EB, go to http://www.ebinfoworld.com/.

In conclusion, EB is a rare genetic skin disorder that causes mild to severe skin blistering, and in some cases it can cause death. EB sufferers have to go through this every day and they can't hug anyone, they cry from the intense agony, and deal with the downside of not being able to interact physically with anybody. They live a painful and lonesome life. However, if we support funds to research EB and find cures for it, then we can help them. I have one last thing I want to do and that is to show you a little bit of a movie about Butterfly children. I hope it has a great impact.

EB (Epidermolysis Bullosa) is a very severe genetic disorder. It affects your skin. It means "the breakdown and blistering of the epidermis." It is characterized by much bleeding of the skin at the slightest contact. For this reason, people with this disorder are very sensitive to everything that touches them. The children that get this disease are known as Butterfly Children, because their skin is as sensitive as a butterfly's wings.