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

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.

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

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

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.

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

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

It was important to discuss with Lisa during consultation family history that could provide additional support for my final diagnostic conclusion .Going thru such topic area Lisa explain that her husband James dad was suffering with atopic eczema since childhood .This was quite an important piece of information as such conditions like atopic eczema ( dermatitis ) are hereditary conditions often (National Eczema Society ,2011).Atopic dermatitis or eczema is a chronic skin disorder inflammatory with pruritic skin that appears mostly on the face ,neck ,bends of the arms or legs caused by the malfunction in the skin barrier( NICE,2013).

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.

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.

Childhood is a time for frolicking and having fun. A time to explore, to discover, to interact with other children, a time to be carefree, but imagine a child who will never know what is like to run and jump, to play games with others and not worry about anything, because even the slightest physical contact will damage his or her skin. Many children are born with many different diseases. One of the rarest and difficult diseases is Epidermolysis Bullosa, a rare skin disease. Even though this is a rare disease, there is a tremendous amount of knowledge to it and many researchers looking for a cure. Epidermolysis is in a group of inherited diseases that are characterized by blistering lesions on the skin’s surface and in the mucous membranes.

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

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

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.

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.

There are so many skin disorders out there that are common and the one that I am going to write about is chicken pox. There is a vaccine that can prevent this but you still can get it in your life . Once you have it one time you arent likely to get it again. It seems to be that 95 percent of people do in fact get it once in their life. There is a antibiotic that you can take to help cure this skin disorder.