Xeroderma Pigmentosa causes UV light sensitivity, kids at risk
Early Diagnosis of XP -A Life Extending Endeavor, UV light sensitivity. by Joseph Malak, M.D.; CHP Poughkeepsie, NY Xeroderma pigmentosa (XP) is a very rare, heritable disorder whose distinguishing feature is an increased sensitivity to ultraviolet (UV) light. Early diagnosis and intervention can delay the onset of its many complications - including premature death. The appearance of the first symptoms of XP is typically between 1 and 2 years of age. About half of the children present with a history of severe sun burns on minimal exposure to sunlight. The others present with numerous freckle-like spots on sun-exposed parts of the body. Later on, other symptoms - including premature aging and cancers of the skin, eye problems, and neurologic abnormalities - can develop. The physician seeing a small child with numerous pigmented lesions on sun-exposed areas will probably suspect XP quickly, even if the child has a fair complexion. The small child with a history of sunburn may be a bit more problematic. If the doctor suspects that more than simply too much sun exposure was involved, the child will likely first be tested for porphyria, a disorder of red cell metabolism. This condition occurs more often than does XP. If the testing for porphyria is normal, and the child has an otherwise normal appearance (this excludes some other rare disorders also showing sun sensitivity), the child should be tested for XP. This involves measuring the activity of DNA repair enzymes in a skin biopsy specimen. Only a tiny piece of skin is needed and is usually obtained from the upper arm. The workup of XP can take several months to complete. From the moment that XP is considered a reasonable possibility, it is important for the doctor to advise parents to carefully reduce, if not totally avoid, UV light exposure. Experience has shown that early avoidance can delay the onset of complications and lead to a healthier - and happier - patient. The XP Society is the international authority for XP family support and information regarding making intelligent decisions in the caregiving of an XP family member. "Children of the Moon", online community for persons with XP and similar light sensitivity disorders. Also, "Xeroderma Pigmentosum Society, INC. Craryville, NY 12521, 437 Snydertown Rd. Medconsumer.info
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