Wednesday, May 28, 2014

Diagnosis of Xeroderma Pigmentosum (XP) ... (1/2)

Usually the Xeroderma Pigmentosum is detected in early infancy ¾within 1-2 Years.

A child having severe sunburn after their first exposure to sun may be a clue to the diagnosis of Xeroderma Pigmentosum (XP). XP can usually be conclusively diagnosed by measuring the DNA Repairing Factor from skin/blood sample.

Some affected children do not get sunburned with minimal sun exposure, but instead tan normally. By the age 2, almost all children with XP develop freckling of skin in sun-exposed areas (such as face, arms & lips); this type of freckling rarely occurs in children without the disorder.

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