Case Study: Xeroderma Pigmentosum

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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 …show more content…
In 1878, R.W. Taylor reported the first cases of XP in the United States. After reviewing the literature on the topic, he found a total of 40 cases worldwide. In 1883 Albert Neisser of Germany, reported the first cases of neurologic degeneration in two siblings affected by XP, a variant we now know occurs in 25% of patients with XP. In 1884, H. Radcliffe Crocker from London wrote another case report on XP in a family who had 3 of 4 children afflicted with the disease. In his case report and summary, he concluded that within a family the disease seemed to only affect one sex. Croker observed this to be true in 7 of the 34 cases that he reviewed. He also noted that the disease seemed to afflict one side of the body more than the other. In all the cases he had reviewed either the lesions were right sided or were worse on the right side of the body, however, he was unsure whether or not this was significant. Crocker discussed in his paper that young age at presentation was the commonality across different case reports. All reports of this disease occurred within the first of second year of birth. During that time period the youngest case reported was a five month old and the oldest presentation was a 17 year old. He noticed that all the symptoms occurred in the spring or summer, and began with red spots or patchy redness on an affected child’s face. Parents described that the redness …show more content…
For example, it is still fact that the average age of freckling is before two and that children will develop their first skin cancer before the age of ten years old. The neurologic degeneration noted by First Name Neisser name of book or paper in 1884 is a true subtype of XP affecting nearly 25% of all patients. Unfortunately, as noted by Bradford in his study these patients tend to have a worse prognosis. The average lifespan in patients with neurologic degeneration is 29 is significantly lower than the average lifespan of an XP without neurological degeneration, which is 37 years old. The most common cause of death in XP patients is skin cancer. Need wrap up sentence here. Currently researchers have discovered seven different XP gene mutations, which are known as XPA-G. Patients with XP-A, B, D, and G blister more with minimal UV light exposure and have a predisposition for the neurologic degeneration. Specifically it is now known that the process of nucleotide excision repair is the primary defect and hindrance to repair of damage caused by UV

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