Avanços em Engenharia Genética
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Overview of Xerodermatic Pigmentsum Mutations, Prognosis, and Treatment

Satyajit Patra

Xeroderma Pigmentosum (XP) is a rare disorder, first described by Hebra and Kaposi. Cleaver provided a clear understanding of XP as it played a central role in DNA mutation in cancer [2]. This rare disorder is an autosomal recessive skin disorder where cells are unable to repair the damage caused by UV radiation. This leads to early skin changes, sunburns, dry skin and increased development of skin tumors and damage to the eyes brought on by UV light. Although rare, XP is present throughout the world in majority of ethnicities. Current statistics indicate that there are approximately 100 diagnosed cases in the UK. Furthermore, 1 in 1 million incidences are reported in the US. In addition, high rates have been reported in certain areas such as Japan and the Middle East.