The sun is something we all take for granted; a big fiery star 92,960,000 miles up in space, that is there every day, waiting to greet us. We expect it to rise and set at a certain time and don’t think much more of it. What if you couldn’t go out in the sun? What if your flesh burned in the light and retired you to the darkness of your locked up home. This is how children live who suffer from the inherited disease, Xeroderma Pigmentosum, otherwise known as XP. It’s a rare disease that causes extreme levels of sensitivity to UV light. The human skin is normally able to repair the skin damage, but children living with XP cannot. Its strikes one in one million born in the U.S. and Europe but is more commonly found in Japan, North Africa, and the Middle East. Xeroderma Pigmentosum is a difficult disease to live with and takes a toll on the life of the patient, and family members around them, but with understanding of the symptoms, adjustments to their daily life, correct treatments, and the prognosis it is manageable.
XP has a multitude of signs and symptoms to look out for, most appearing in infancy. One of the first signs is early onset freckling of the skin on the face, arms, or lips. It usually appears before the age of two. The face also has spider-like blood vessels that show through the skin, which is extremely thin. Coverage of discoloration patches, along with crusting, scaling, and oozing can also be seen (“Xeroderma Pigmentosum.” The New). The most important signs to look out for are photophobia, discomfort in light, and extreme sunburns after only short moments in the sun (Hartree). Some children even experience hearing loss and loss of previously attained abilities like walking or talking (XP). There are also difficul...
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... and the parents of the patients have an understanding of all parts that follow XP, life is livable. Though they do not live long, if treated properly, symptoms are in check, and know the possibilities; Xeroderma Pigmentosum is feasible to live with day by day.
Works Cited
“Erythema.” Mosby’s Medical Dictionary. 9th ed. St. Louis: Elsevier, 2013. 641. Print.
Hartree, Naomi. “Xeroderma Pigmentosum.” Patient.co.uk. 18 Mar. 2011 Web. 17 Apr. 2014.
XP Family Support Group. n.d. Web. 24 Apr. 2014.
“Xeroderma Pigmentosum.” Cancer.net. 2012. Web. 17 Apr. 2014.
“Xeroderma Pigmentosum.” DermNet NZ. 2002. Web. 17 Apr. 2014.
“Xeroderma Pigmentosum.” Genetics Home Reference. US National Library of Medicine. 7 Apr. 2014. Web. 15 Apr. 2014.
“Xeroderma Pigmentosum.” NCBI. 20 June 2003. Web. 17 Apr. 2014.
“Xeroderma Pigmentosum.” New York Times. 15 May 2013. Web. 16 Apr. 2014.
The mindset of every living organism is to survive and reproduce. As such, it may be surprising to hear that diseases actually plays a crucial role in the survival of our predecessors. In the book Survival of the Sickest, Dr. Sharon Moalem discusses the role these hereditary disorders played in keeping our very ancestors alive. Three examples mentioned in the reading selection include hemochromatosis, diabetes, as well as favism. All the diseases I mentioned had a specific aspect, to which I found particularly appealing. In the case of hemochromatosis, I found it intriguing how the author used his own life to draw a connection between the two traits. Dr. Sharon Moalem lost his grandfather to hemochromatosis and later was diagnosed with the
Twin studies have been used to distinguish between genetic and environmental factors for many disorders in the general population including ectodermal dysplasia, Ellis-van Creveld, and anencephaly. This review focuses on genetic disorders affecting monozygotic, dizygotic, and conjoined twins to gain a better understanding of them. Many studies focus on twins because they have a nearly identical genome, which eliminates environmental factors. In case studies, the concordance rates in monozygotic twins have supported that certain disorders were caused by genetics and not the environment. The discordant values in twins will also be evaluated briefly. Twinning studies have also shown linkages between specific disorders and the genes responsible for them. Knowing the location of these genes allows patients to be treated quickly and efficiently. This paper will discuss the possible causes of twinning and the various methods of identifying abnormalities in twins. These methods also allow preventive measures against the rise of birth defects during prenatal development. Epigenetics in twins is also viewed through the perspective of effects on them. Treatments for genetic disorders in twins are reviewed, ranging from the restoration of malformed teeth to the separation of conjoined twins. Support groups for twins in treatment, and their families are also briefly reviewed.
Xeroderma Pigmentosum is a genetic disorder caused by a mutation in one of any seven genes. This genetic mutation is an autosomal recessive trait. This disease was discovered in 1874 by Hebra and Kaposi. People with this disease cannot have direct exposure to sunlight, or blisters on the skin may occur. There are only about 250 people in the world with this disease.
Skin cancer is a significant public health issue in Australia. Exposure to ultraviolet radiation emitted by the sun in the UVA and UVB wavelengths is the primary cause. Australia has been a world leader in efforts to protect the ozone layer, the main line of defense against ultraviolet radiation emitted by the sun. Ultraviolet radiation induces the formation of thymine dimers that cause mutation of skin cells if not repaired before DNA replication. Mutations of tumor suppressor genes can lead to uncontrolled cell growth. Ultraviolet radiation also causes immunosuppresion that allows skin cancers to become established. Basal cell carcinoma, squamous cell carcinoma, and melanoma are types of skin cancer caused by sun exposure, though each form is associated with a different pattern of exposure. Australia has the highest rate of skin cancer in the world, due to a combination of tropical latitude, fair-skinned population, outdoor lifestyle, and high amount of ambient ultraviolet radiation. Widespread opinions about tanning and health benefits of sunlight lead many Australians to intentionally overexpose themselves to the sun. State cancer councils have developed sun safety and awareness campaigns, such as “Slip! Slop! Slap!” and “SunSmart,” to educate the population about sun exposure and encourage early detection of skin cancers. Gradual changes in knowledge and behavior indicate that the fight against skin cancer can be won.
Up until the early 1960s, the people of that generation grew up believe that exposure to the sun was healthy and could be used as potential treatments for ailments like acne, for example. The doctors of the early 20th century even promoted the use of the sun’s ultraviolet rays (UV rays) as a treatment for certain strains of tuberculosis. Little did they know the long run consequences of prolonged exposure to the now-labeled ...
Imagine an eye disease so rare, it is more common in males and cannot be prevented. Coats disease is a disease that causes a gradual decrease in vision in mainly males. It can lead to retinal detachment and vision loss. Coats disease is a very rare disease that occurs mainly in males; however, it is not hereditary. There is treatment available that can possibly cure Coats but, that is only if it is caught early on. Most of the time, Coats is not diagnosed until later in life which in that case can lead to loss of vision. As I researched more about Coats disease, I hope to learn more about this eye disease to understand more about what my son is going through. The three main things that I will be researching and discussing about Coats will be the causes, diagnosis, and treatment. There is not a lot of research done on Coats due to it being so rare.
Over all, skin cancer is known to be a very common and dangerous cancer among the U.S.. Although there is no superior or particular cause known for it, it can be reduced by reducing radiation exposure from the sun and also tanning booths and beds. If not attempting to prevent it by staying out of the sun, and seeking not seeking shade and so forth, protection such as longer clothing garments that better cover the body as well as hats and sunglasses can help to eliminate direct exposure and reduce some of the damages that may occur. Certain amounts of sun light are healthy for the body as it provides vitamin- D which the body needs to maintain a healthy life style, though it is crucial not be over exposed as reverse side affects may occur, causing more harm than good.
Indoor tanning is becoming a very popular “hobby”, but most people do not know, or do not care, about its dangerous side effects. Studies show that people who use tanning booths have a much higher chance of being diagnosed with skin cancer. If someone were to start tanning indoors before they turn 30 or 25, the risk of them getting Melanoma peaks, and if they start tanning before they turn 20 or 25, they are much more likely to get basal and squamous cancer.
Indoor tanning is a controversial topic and has even been the subject of lawmakers in many states for at least the past ten years. Tanning is a symbol of “health and wealth” for many living in the developed countries and yet it is associated with one of the most deadly cancers known to human beings because of the chemical reaction the Ultra Violet (UV) rays at the cellular level. The research is clear that the use of indoor tanning beds can be dangerous and yet, there are some benefits of using indoor tanning beds. Research has also shown that exposure to UV radiation contributes to the synthesis of Vitamin D in the body, it also can positively boost mood, can heal certain types of skin disorders and may also be helpful for those suffering from fibromyalgia. The indoor tanning industry should make known the risks of using a tanning bed known before selling their use to people. Before one makes a decision to use a tanning bed she should be well informed of the risks and benefits.
All organ system work together; in order to keep and support the conditions that the cells, tissues, and organs need to function properly. Each organ system has an important function in the body. There is one system that is not as well known as other; it is the integumentary system. Most people know the organs of the integumentary system, but they do not know that these organs work together to form this system.
The word melanoma comes from the Greek words, melas (black) and -oma (tumour). It is a very serious cancer that most often occurs in the skin and less frequently in the eye or in the lining of the nose, mouth, or genitals. Melanoma begins in melanocytes, cells that make a pigment called melanin. Both light- and dark-skinned people have melanin, which gives colour to the skin, hair, and parts of the eye.
Robert, a 65 year-old male, has trouble reading fine detail, especially out of his central vision. He complains that his vision is blurred and that it is harder to see while operating a motor vehicle. In addition, sometimes objects appear wavy or crooked, which impairs his vision. His worst symptoms were that he occasionally lost the ability to distinguish between the features of familiar faces and he had a localized blind spot. Robert is not alone; many people suffer from symptoms related to loss and distortion of the visual field. He suffers from macular degeneration, the leading cause of decreased vision loss in the United States, especially for people over the age of 50 (Philippi, 2000).
...cations. Many people will find that amount of sunlight they receive has little or no impact on the state of their psoriasis, but in the cases where the light therapy has worked, it seems to reduce the appearance of the lesions greatly. Obviously, the risk of the UV light therapy is the possible threat of skin cancer.
Albinism is a very serious disease that could end up in death. Albinism is a recessive inherited defect in melanin, which is metabolism in which pigment is absent from skin, hair, and eyes. Albinism in hair, skin, and eyes is called oculocutaneous albinism. Humans that have oculocotaneous albinism are not able to produce melanin. These people have white, yellow, or yellow brown hair, very light ( usually blue ) eyes, and very pale skin. Their eyes may appear pink because they have very little pigment.
Most individuals are either related to or know someone who is effected by some type of disability. Many of these disabilities are caused by genetic disorders. Genetic disorders may alter physical appearance and cause mild to severe mental retardation. Fragile X syndrome, Down syndrome, Turners syndrome and many other syndromes result from a mutation of a chromosome, an extra chromosome, or too few chromosomes.