Essay on A Report On Xeroderma Pigmentosum ( Xp )

1694 Words Dec 1st, 2014 7 Pages
Xeroderma Pigmentosum (XP) is an autosomal recessive disease that impairs the ability of DNA repair in cells that are damaged by ultra violent light. XP is rare and roughly affects 1:250,000 Americans a year1. Unsurprisingly, early in a patient’s childhood they have extreme sun sensitivity, which gravely increases their incidence of basal cell carcinoma, squamous cell carcinoma, as well as benign and malignant melanomas. Before affected children reach the age of 20 years old, their incidence of malignant melanoma increases 2000 fold when compared to the general public1. The disorder also carries a number of other sequelae including ocular and neurologic abnormalities. XP was first described in the late 19th century and research has come a long way from the first descriptions, theories on pathology, as well as (patient outcomes) advances in treatment since that time. Moriz Kaposi was the first to describe what we now know as XP, or literally “parchment skin2.” Kaposi, who was born in Hungary and practiced at the Vienna clinic, was famous world wide in his time3. In 1874, Kaposi described 4 cases of XP in an early textbook entitled On diseases of the skin including exanthemata, volume III2. In his description he states, “In addition to the parchment-like dryness, thinness, and wrinkling of the epidermis, the checkered pigmentation, and the small dilatations of the vessels, the most remarkable symptoms were the contraction and, at the same time, thinning of the skin2.”…

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