Abstract. Harlequin Ichthyosis (Hi) Is A Genetic Disorder

Healthy and functioning skin barrier is important protector against dehydration, penetration of various microorganisms, allergens, irritants, reactive oxygen species and radiation. The skin barrier may be specifically adjusted to allow penetration. For this reason daily skin care may increase skin regeneration, elasticity, smoothness, and thus temporarily change the skin condition.

Necrosis of the cells in the small, lower airways occurs, and mucous secretions are increased (Conquest, Cremonesini, & Neill, 2013). Because of the ciliary damage in the infants’ lungs, it is almost impossible for the secretions to be cleared. Bronchiolar level obstruction is caused by these mucosusal secretions, as is desquamation of the dead skin cells and edema (Conquest, Cremonesini, & Neill, 2013). Plugs of soughed, necrotic epithelium and fibrin in the airways will cause partial or total obstruction to airflow, making it very difficult for he infant to exhale which will consequently result in air becoming trapped and will reduce gaseous exchange (Conquest, Cremonesini, & Neill, 2013).

Harlequin Ichthyosis, also known as Harlequin syndrome, is a rare genetic skin disorder where the epidermis layer of thin skin is thicker than normal. This disorder is present at birth and is not gender specific. Someone with the disorder would receive a mutated version of the ABCA12 gene from both parents; however, the parents show no signs or symptoms of this genetic mutation. The gene, where the mutation is found present, is responsible for making proteins that are used in the process of normal skin cell development. Because of the mutation, the epidermis endures abnormal development and hard, thick plates of skin are produced.

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

immune system creates antibodies to stop the growth of healthy proteins in the skin and mucous membranes. As a result, these antibodies break down the cell bonds and fluid collects between the layers of the skin and form skin erosions. This skin disorders commonly occurs among adults over the age of 40. Treatment may involve antibiotic pills and antifungal medicine to control or prevent potential infections, which may break open, become severely infected and cause fatalities.

There are treatments to make living with this disorder a little easier. Babies born with this need immediate and intensive care in the NICU. Babies born with this are less able to maintain a safe body temperature. They are more prone to fluid loss, dehydration, and life threatening infections. In their first week of life to have any chance of survival they may need: intravenous tubes to deliver fluids and nutrients. They also need monitoring of electrolytes and sodium, lubrication for their eyes if they’re forced open. With having this disorder they have a hard time keeping their body temperatures normal, which means they need help in doing so… They need to be in a high humidity incubator to even maintain a normal body temperature and prevent cracks in their skin. The Doctors can prescribe antibiotics so the infection does not spread any further. Doctor can also prescribe retinoids which is any type of cream to accelerate the shedding of the skins scales. It is an ongoing treatment of keeping the skin moisturized and avoid more scaling or cracking that could lead to more infection. How long do babies diagnosed with this disorder

The mutated gene in Ichtyosis Vulgaris is on chromosome Iq21 and it comes out to be profilaggrin. That type of gene is part of a group of genes on chromosomes on Iq21 that encrypt the proteins made in terminally separating epidermis. With that gene mutated it changes the way the skin is created from its normal ways to its new dried up scaly style not the normal smooth refreshed skin most people have. You really have no way of changing this disease at all you were born with this gene, this mutated gene, this ruined chromosome it’s just the way you were meant. Live on with it would be the best way to go on.

Topical care can include antiseptic solutions or ointments that act as disinfectants. Fluid replacement and nutrition is critical for healing, and the majority of patients are unable to drink and eat, they may receive fluids through a nasogastric or gastric tube. Due to the risk of eye problems, an ophthalmologist is consulted to evaluate the

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.

Target Organs: There is limited evidence from animal studies that overexposure may cause injury to the kidneys.

body would begin to become putrid, this process protects it and helps in the preservation of the

After watching my mother who is a nurse for the NHS for the most part of my life, the way she shows full devotion to her work and her dedication, made me realise in my few years in college that I have had a passion for science especially in the medical field and heath. This was later reinforced by my frequent visits to the hospital which gave me the invaluable chance to talk to some medical professionals, which helped me reaffirm and come to a natural choice in healthcare. So why did I choose this course?

In agreeing with the previous clinicians’ diagnosis of Vanessa exhibiting a major depressive disorder support for this diagnosis follows on from her verbal and DASS score reports, which reported a moderate level of depression. She has corresponded with numbers— 1) depressed mood most of the day, 2) diminished interest or pleasure, 4) insomnia 6) fatigue or loss of energy 7) feelings of worthlessness or inappropriate guilt, of criterion A of the DSM5 diagnosis of major depressive disorder. Vanessa further corresponds with criterion B; where her symptoms have been causing distress and social impairment in occupation, C; where her symptoms have not been as a result of substances or another medical

The most serious of these being hyaline membrane disease (HMD), most commonly known as RDS or respiratory distress syndrome. Babies that suffer from this condition will tend to find it very difficult to breathe due to the increased surface tension and the ultimate lack of oxygen transported through the body can seriously impair and damage the functions of the brain and other organs of the baby. Surfactant deficiency’s can also sometimes be caused by mutations in a particular gene. An example of this is surfactant protein or SP-B deficiency. This particular dysfunction is hereditary and is caused by a gene mutation on chromes number two. Babies that suffer from tis condition rarely survive past a few months. However there are some procedures that can help babies who may have been born prematurely and have not manufactured enough surfactants to support regular functions. Surfactant replacement therapy and surfactant supplements are amongst the most popular treatments of these types of surfactant deficiencies in newly born

CAT 1: Animal Farm Text Response Statement of Intention: In this essay I will discuss how Squealer can get what he wants through deception and lies in George Orwell’s Animal Farm. Topic: Lies and deception are essential tools in order to maintain power. Discuss the role of Squealer in the novel as an excellent example of propaganda advertising.