A Life-Threatening Disease Causing Infants to Blister, Epidermolysis Bullosa

Skin (history of skin disease, pigment or color change, change in mole, excessive dryness or moisture, pruritus, excessive bruising, rash

Having these conditions is what it is like to be someone who has this disease. These patches of reddened skin can develop for being in the sun for even just a little while. The victims of Bloom Syndrome have very sensitive skin and have to be careful around the sun. Having this skin type, they are more prone to cancer because they are sensitive to the sun. People with this disease are liable to get any type of cancer. Bloom Syndrome is and inherited trait that comes from both of the parents. Both of the parents have to have a bloom syndrome trait in their genes which is passed on to the offspring. The child then has both copied genes passed onto them. Both copies of the BLM gene have to be mutated in order to get this disease. This is also known as an autosomal recessive pattern. There can also be places on the skin that can be lighter of darker than the skin surrounding the spot. Most with Bloom Syndrome have a high-pitched voice, long narrow face, and a smaller lower jaw. Kids in school with this disorder can have learning problems or disabilities. Bloom Syndrome can also bring an increased chance of COPD, also known as

Epidermodysplasia verruciformis is one of the most defying horrific rare diseases in the world. Epidermodysplasia verruciformis is also called Lewandowsky-Lutz dysplasia, Lutz-Lewandowsky, and the tree man disease. Epidermodysplasia verruciformis is a recessive hereditary genetic skin disorder. Partial defects in cell-mediated immunity have been demonstrated in this disease. Numerous warts appear on the hands and feet sometimes all of the over the body. Certain people with this condition usually began to show symptoms between the ages of one through twenty. It usually gets worse when they become middle aged. There are different causes, diagnosis, cures, treatments and symptoms to epidermodysplasia verruciformis.

And this disorder affects the skin, hair and nails. This happened because the layer that is in charge of these things when the fetus was being created failed to develop. Malanie Gaydos, who is a model, has this genetic information she lacks hair, teeth, nails and her skin is very sensitive. She has learned to embrace this disorder and is now living her

Collagen is responsible for giving strength and structure to skin, bone, blood vessels, and other internal organs. It affects about 1 in 5,000 people. This disorder is usually, but not always, dominant. Some types of the 11 types of EDS are dominant and some are recessive. This Punnett square diagram demonstrates the heredity of the syndrome.

This condition develops when the body's defense system (immune system) attacks the layer of tissue beneath the skin. It is not known why this happens.

Epidermolysis Bullosa is a group of inherited connective tissue disease that cause blisters that affects layers of the epidermis (outer layer) and the dermis (inner layer) of the skin. Because the skin of the infected person is so thin and fragile they tend to suffer from skin tears exposing areas that can easily become infected. Epidermolysis Bullosa not only affects the skin but has adverse effect to the inner lining of the mouth, throat and gastrointestinal. Also, in severe cases EB affects the musculoskeletal system. Other areas EB may affect are the urinary tract causing painful urination and the airway resulting in breathing problems.

These three types are caused by different gene mutations. EB Simplex is caused by autosomal dominant mutations in the genes responsible for keratin 5 and 14. Keratins are proteins that give the epidermis its structural support. These mutations can cause the skin to fall apart and cause blisters. It can cause people to loose hair and teeth. It is also the least dangerous type of EB. Junctional EB is caused by mutations in genes that “encode the proteins collagen 17 or laminin-5” (Fallon). These proteins help hold the skin together, and if they are absent, the skin would separate and blister. It can cause skin to shrink, and affected infants may not survive due to massive infection and dehydration. Dystrophic EB is caused by mutation in the COL7A gene that “produces collagen 7” (Fallon). It can also cause under skin blistering, and can have blisters in the mouth, esophagus, and digestive tract, which can make eating very

2. Mutations to RHBDF2 have been linked to the cause of development of this syndrome. This disease is autosomal dominant and will only need one parent to pass on the mutation. They only need one copy of the mutated cell in the genes for it to develop. This disease is characterized by palmoplantar keratoderma and will begin to develop around age ten and then the person will develop cancer after the age of twenty.

of the hand, as well as between the fingers, which increased rapidly in size and became

Autosomal dominant for classical type. But EDS can also be inherited in autosomal recessive or x-linked fashion-

In the last few years, researchers have made great progress in efforts to treat this disease. Common treatments include the use of creams, makeup, and surgery. Creams work to mainly reduce any possible inflammation and some brands even claim that their creams can restore one’s original color. However, many of the advertised creams turn out to have little to no effect and some tend to have side-effects that can result in burns or rashes. Alternatives for cream-based products include getting either skin grafting or blister grafting surgeries. Skin grafting is the process of peeling away small sections of the epidermis layer that has regular pigmentation and placing onto the affected areas. Blister grafting is similar to this process, except it involves the creation of blisters. The blisters are created using a suction and then doctors will remove the top layer of it and transfer it onto the areas with no pigmentation.

Some might ask how is ectordermal dysplasias is caused. Ectodermal Dysplasias is usually caused from altered genes. The genes themselves may be inherited or regular genes become defective at the time of conception. This is known as mutation. The probability for children to be depends on the parent's type of ED that exists in the family.A person cannot modify or choose the genes that they are given, and events that happen during pregnancy do not change or affect the genes in any way. A parent who has a child with ED shouldn't think that they did anything to cause or affect the defective gene and shouldn’t blame themselves for it occurring in there child. One commonly occurring type of

Of the recorded US cases, most patients are afflicted with the simplex form of EB. Of the approximately 10,000 cases, 600 are junctional EB, 600 are recessive dystrophic EB, 840 are dominant dystrophic EB, and 320 of the cases don’t fall under a known form (“Welcome to the World…” 1). In Scotland, a study estimated the frequency of the disorder to be one in 20,400. In other regions of the world, research estimates the prevalence to be one in 100,000 (Fallon

The reason I chose to present my skin disorder article is because I think it’s important that we learn about burns and I am talking about the fire, steam, or chemical burns not the burns your friends give you. Burns is one of the top injuring at home and outside home their is an estimate of 3,500 deaths per year, adults and children included, a burn is considered a skin disorder because it affects the outer layer, the epidermis, the dermis layer and it can also affect below the dermis layer, depending on how bad your burn is will be how much of your skin is affected.