Definition:
Xeroderma pigmentosum or XP for brevity, is said to be an autosomal recessive genetic disorder of DNA repair where it is characterized by the inability to repair Ultraviolet or UV damages. More often it usually leads to the multiple basaliomas and skin malignancies.
Diagnosis:
Diagnosis includes examination of the patient's history as well as physical and laboratory examinations.
Treatment:
Treatment includes the administration and use of Isotretinoin inasmuch as it reduces the number of Keratoses (E. C. Friedberg, G. C. Walker, W. Siede, R. D. Wood, R. A. Schultz and T. Ellenberger (2006). DNA repair and mutagenesis. ASM Press, 1118). On the other hand, existing keratoses is usually treated by cryotherapy or fluorouracil. Also avoidance to sun exposure is highly advised.
Symptoms and Signs:
Symptoms include having an unusual sunburn even after short time exposure to the sun which may last for weeks. It also manifest through freckles even at a young age, unusual dark spots, think skin, excessive drying of the skin, solar keratoses, eyes that are sensitive to the sun which may become clouded and irritated, blistering, spidery blood vessels and scaly skin.
Causes:
Xeroderma pigmentosum is said to be an inherited disorder. It is an autosomal recessive pattern of inheritance whereby two copies of the altered gene are needed in order to cause the disorder. It is most commonly a defect resulting the reduction or even elimination of the nucleotide excision repair or the NER.
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