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Review Paper On Xeroderma Pigmentosum Beaches, wind-surfing, and other outdoor activities such as building sand castle, are what people think of doing when it comes to Summer. People go sun bathing on beaches, or use tanning beds to get nice tan on their skin For a certain group of people, just getting out of the house is very difficult for them. For these people, being exposed to the sun means another step closer to death Building sand castle surely is not an option. This very rare disease that is responsible for this unpleasant reaction is called Xeroderma Pigmentosum, known as XP in short. Despite the fact that it only occurs 1 in 250,000 people, the effects of this disease is remarkably severe People who suffer from Xeroderma Pigmentosum have to deal with many symptoms, for example skin disorders. One of the most common features of this disease is the severe sunburn after a short sun exposure. At birth, the individuals skin is healthy but after a while it will soon be damaged even with minimal sun exposure. The sunburn may last longer than what it normally 2, during a child s firstsun exposure, and can be very significant sign for the se of should, sometimes even weeks. This incident most likely occurs before the age of parents to question whether the child might be suffering from this disease. Other than irregular sunburn, a lot of freckles can be developed at a very early age Patients suffering from XP may also have irregular dark spots, excessive dryness, scaly skin, and limited growth of hair on chest and legs Other than skin abnormalities, 80 percent of XP patients might show symptoms of eye abnormalities. The patients might feel pain from the eyes when exposed to the sunlight. Even a small ray of light can produce discomfort feelings such as irritation to a patient. There may also be an inflammation of the eyelids, called blepharitis, and also an inflammation of the cornea, known as keratits Although neurological disorders occur only 30 percent for XP patients, but the effects are greatly serious. Most of XP patients who have neurological disorders usually experience loss of hearing, especially in high frequency. Other than losing the sense of hearing, XP patients may have to deal with one or more of the following symptoms, such as seizures, poor co-ordination, development of mental retardation, and decreases of reflex responses. Because Xeroderma Pigmentosum is an autosomal recessive disease, to obtain this disease, the individual will have to inherit two copies of the mutated gene, one from the father, and one from the mother. Therefore, if the individual only inherits one XP gene, this will only make that person a carrier, and the individual will not be affected physically by this disease. However the gene from the carrier can be passed to the next generation Every normal human being has a unit in the body that has the responsibility to repair the damaged dNA. dna is very significant to life because it is a chain of genetic information in each living cell. Its stability and integrity are very important Not a lot of people know this, but the rate of damaged dna is about 1,000 to 1,000,000 molecular lesions per cell per day. It may sounds a lot, but it is only about 0.000165%of the human genome. Damages to the dNa can be caused by two main factors, one if due to the environmental factor, and the other is due to the normal metabolic processes inside the cell. When dna is being repair properly, everything runs smoothly inside our body. However when the dna is damaged and is unrepaired, there could be many problemsReview Paper On Xeroderma Pigmentosum Beaches, wind-surfing, and other outdoor activities such as building sand castle, are what people think of doing when it comes to Summer. People go sun￾bathing on beaches, or use tanning beds to get nice tan on their skin. For a certain group of people, just getting out of the house is very difficult for them. For these people, being exposed to the sun means another step closer to death. Building sand castle surely is not an option. This very rare disease that is responsible for this unpleasant reaction is called Xeroderma Pigmentosum, known as XP in short. Despite the fact that it only occurs 1 in 250,000 people, the effects of this disease is remarkably severe. People who suffer from Xeroderma Pigmentosum have to deal with many symptoms, for example skin disorders. One of the most common features of this disease is the severe sunburn after a short sun exposure. At birth, the individual’s skin is healthy, but after a while it will soon be damaged even with minimal sun exposure. The sunburn may last longer than what it normally should, sometimes even weeks. This incident most likely occurs before the age of 2, during a child’s first sun exposure, and can be very significant sign for the parents to question whether the child might be suffering from this disease. Other than irregular sunburn, a lot of freckles can be developed at a very early age. Patients suffering from XP may also have irregular dark spots, excessive dryness, scaly skin, and limited growth of hair on chest and legs. Other than skin abnormalities, 80 percent of XP patients might show symptoms of eye abnormalities. The patients might feel pain from the eyes when exposed to the sunlight. Even a small ray of light can produce discomfort feelings such as irritation to a patient. There may also be an inflammation of the eyelids, called blepharitis, and also an inflammation of the cornea, known as keratits. Although neurological disorders occur only 30 percent for XP patients, but the effects are greatly serious. Most of XP patients who have neurological disorders usually experience loss of hearing, especially in high frequency. Other than losing the sense of hearing, XP patients may have to deal with one or more of the following symptoms, such as seizures, poor co-ordination, development of mental retardation, and decreases of reflex responses. Because Xeroderma Pigmentosum is an autosomal recessive disease, to obtain this disease, the individual will have to inherit two copies of the mutated gene, one from the father, and one from the mother. Therefore, if the individual only inherits one XP gene, this will only make that person a carrier, and the individual will not be affected physically by this disease. However, the gene from the carrier can be passed to the next generation. Every normal human being has a unit in the body that has the responsibility to repair the damaged DNA. DNA is very significant to life because it is a chain of genetic information in each living cell. Its stability and integrity are very important. Not a lot of people know this, but the rate of damaged DNA is about 1,000 to 1,000,000 molecular lesions per cell per day. It may sounds a lot, but it is only about 0.000165% of the human genome. Damages to the DNA can be caused by two main factors, one if due to the environmental factor, and the other is due to the normal metabolic processes inside the cell. When DNA is being repair properly, everything runs smoothly inside our body. However, when the DNA is damaged and is unrepaired, there could be many problems
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