Xeroderma Pigmentosum : Causes, Symptoms, and Treatments

There are a lot of rare types of disorders or diseases, and xeroderma pigmentosum is one of these. This rare disorder is characterized by an individual’s extreme sensitivity to sunlight. What is more, he or she is vulnerable to the premature signs of skin aging. A patient with this disorder is also at risk of skin cancers. A person who has this condition has a gene defect. The responsibility of this certain gene is repairing damaged cells due to the exposure to UV light rays. When the cells are not repaired, this often results to the development of cancer cells or death of the cells. This type of disorder is inherited while the patient is still at his or her childhood. Sometimes, this condition is called as XP.

You will know whether you have this rare condition when you notice that you have multiple pigmented areas and huge atrophic lesions. The disorder is also characterized by the white and glossy thinning of your skin. The pigmented marks which appear on your skin are similar to freckles. A lot of patients who are affected with xeroderma pigmentosum do not last long. Even at an early age, they may die due to skin cancers. On the other hand, there are also some cases wherein the patient lives longer. These cases usually involve those which have been diagnosed right away, those which do not have extreme neurological signs, and those which are not severe cases. Patients who make sure that they are extra careful when it comes to UV light rays exposure also survive long enough.

XP is due to the defect of one of the patient’s genes. This inherited disease is considered as autosomally recessive. An individual inherits this condition from both of his or her parents. XP is inherited by taking in 1 recessive XP gene from each of the parent. If your parents are both carriers of this disorder, there is a huge possibility that you might be affected with this condition. In order for you to determine whether you have xeroderma pigmentosum or not, you have to watch out for symptoms. There is a likely that you have XP when you experience unusual extreme sunburn even if you have only been exposed to the sun for a short time. This burn can last for weeks. This is often noticed during your first exposure to the sun.

Kids who develop several freckles even at a young age might be affected with XP. This goes the same when the child has several irregular dark marks, and when his or her skin is thin. Another symptom for the disorder would be extreme dryness to the skin. Growths which have rough surfaces and skin cancer are also indications of the condition. When the individual’s eyes feel painful and are sensitive to sun exposure, there is a possibility of inheriting the disorder. XP is usually detected when the child is one or two years old. The diagnosis is done by taking urine and blood samples to measure the repair factor of the DNA. Xeroderma pigmentosum can’t be cured. The only treatment is to keep away the patient from sun exposure to prevent skin damage.