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).
The skin disorders that might results from hereditary, congenital, or acquired pathological processes are ichthyosis, bullous diseases, chronic infections of the skin, dermatitis, hiradenitis suppurativa, genetic photosensitivity disorders, and burns.
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
Mr. Fantastic, the Fantastic Four comic book hero, can stretch himself to staggering proportions before snapping back to normal. But what if that characteristic existed outside the comic book world? Well, it does, but snapping back to normal is not an option for those who have Ehlers-Danlos Syndrome,
A. Dominant pathogenic mutations display their traits despite another copy remains present. The lethal form of keratitis-ichthyosis-deafness (KID) syndrome is caused by the reversion of the GJB2 nonsense mutation p.Tyr136X that would otherwise have confined the effect of another dominant lethal mutation, p.Gly45Glu, in the same allele
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.
Life is full of bacteria that can be beneficial and harmful at the same time. They are the smallest living things that can be found everywhere in the air, soil, water, and even in our body. We actually share our body with many bacteria. Therefore, without the good bacteria we could die because the good bacteria can help digest the food we eat and protects us from bad bacteria that make us sick. On the other hand, living with those organism can be harmful and can cause many diseases. Some of these diseases are produced when bacteria attack the tissues in a plant or animal. Also, it can attack organisms by releasing chemicals. Therefore, they can cause damage to a persons body. These pathogenic organisms are able to reproduce rapidly and split into two identical copies of themselves.
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
The Dystrophic Epidermolysis Bullosa Research Association of America (Debra.org) is a website dedicated to educating the public about Epidermolysis Bullosa (EB). EB is a rare genetic heterogeneous disorder that affects the connective tissue of the skin. The body is unable to produce the appropriate protein and keratin to provide strength and protection of the skin. As a result, the skin is extremely fragile, blisters it easily breaks down from rubbing or slight friction. The intended audience of the website is to provide resources for parents and caregivers of children with EB. The site was developed by Arelene Pessar in 1980. Her son was born with EB. She created the organization to raise awareness among the general public and government
1. Tylosis is specific to esophageal cancer. 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.
indicating poor circulation. Soon later, numerous blisters had developed on the palm and back of the hand, as well as between the fingers, which increased rapidly in size and became