Epidermis: A Genetic Disease

Epidermolysis Bullosa is a genetic disorder that causes the skin to blister even with the slightest force. Epidermolysis Bullosa is found in three different types. Each are caused by different genetic mutations. The most common form of Epidermolysis Bullosa (EB) is Epidermolysis Bullosa simplex (EBS). The less common types of EB

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

ectodermal dysplasia, which is a disorder that stops him from perspiring, sparse hair growth and

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).

Name_____________________________________________ Date____________ Period_____ Epidermis & Dermis Quiz Matching (4 points each) 1. Deep layer of the dermis 2. Layer of the dermis that houses the Pacinian Corpuscle 3. Dermal attachments that hold skin in place 4. Cell that produces melanin 5.

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.

The highly regulated process of epidermal keratinization is the result of differential expression of within the epidermis. Basal keratinocytes express intermediate filament keratins 5 and 14. Suprabasal keratinocytes express keratins 1 and 10, which comprises approximately 85% of total proteins found in fully differentiated keratinocytes. Types I & II intermediate filaments (keratins) (Figure 3) are composed of three domains: (1) a central alpha-helical rod domain, (2) an amino-terminal head, and (3) a carboxyl-terminal tail domain both the head and tail globular domains contain end, variable, and homologous subdomains. The central α-helical domain is approximately 330 amino acids long and is divided into four subdomains (1A, 1B, 2A, and

Skin rashes and sun sensitivity is another one of the symptoms. Patients (as mentioned earlier) will have rashes throughout their body and even on the face. And, because of the rashes, this causes patients to have an extreme sensitivity to sun and they may even burn easily.

Skin conditions can cause poor self-esteem and social anxiety, which impacts interpersonal relationships, and lack of motivation among of other life altering problems. With America’s growing need for primary care physicians due to health care reform, financial incentives are being put towards medical school students and residents that plan on going into primary care as their specialty, but other areas of specialty need more funding as well. There needs to be more funding towards encouraging medical professionals to practice dermatologic care in urban underserved areas where this treatment is really needed.

Classical, Hypermobility, Vascular and Arthrochalasia forms of EDS are transmitted as an autosomal dominant trait. Kyphoscoliosis and Dermatosparaxis type of EDS are transmitted as an autosomal recessive trait. Classical EDS results from a faulty collagen V genes. A decrease in collagen synthesis generally results in defective tissue mechanical properties and is mainly characterized by skin hyper extensibility (Bancelin, 2015). The Vascular Type of EDS is caused by structural defects in the proa1 (III) chain of collagen type III. Kyphoscoliosis Type EDS is the result of a deficiency of a collagen-modifying enzyme (lysylhydroxylase). The Arthrochalasia Type of EDS results from a mutation which leads to the deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. Dermatosparaxis Type EDS is caused by a deficiency of procollagen I N-terminal peptidase (ENDF,

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.

EB is a “life threatening” disease (Fallon). It can be inherited from a dominant gene or a recessive gene. A “mutation in the COL7A1 gene” can easily cause EB (Pausch). This deadly disease affects about 50,000 people in the United States. Children with this disorder can “lose fingers and toes” (Ezzell).Sometimes, it can affect lungs, the esophagus, eyes, nails, the mouth, teeth, and muscles. Scientists have discovered 23 types of EB. Scientists at the University of Chicago say that the mutation in the cells’ keratin causes blisters to appear by “weakening keratinocytes” so they get dissolved when they are touched (Ezzell). In other parts of the world, the disease would affect “one in 100,000” people (Fallon).

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.

Epidermolysis Bullosa the most rarest and painful skin condition ever known to modern medicine, this condition is an inherited gene that is Autosomal, meaning Y and X chromosomes. EB can either be Autosomal Dominant or Receive depending on the type of EB a person has, also this Condition affects a protein that holds skin together with out this protein working or functioning the skin can have a faulty structure resulting to the skin not being as strong as it needs to be. With the skin being very sensitive to movement and friction it can be difficult to move, eat and the person is prone to infection and a higher ricks of skin cancer.

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.