Xeroderma pigmentosa is a rare condition passed down through families in which the skin and tissue covering the eye are extremely sensitive to ultraviolet light.
Causes, incidence, and risk factors
Xeroderma pigmentosa is an autosomal recessive disorder. It means you must have two copies of an abnormal gene in order for the disease or trait to develop.
Ultraviolet light -- such as that found in sunlight -- damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in persons with xeroderma pigmentosa, the body does not fix the damage. As a result, the skin gets very thin and patches of varying color (splotchy pigmentation) appear.
The condition also causes spidery blood vessels in the skin (telangiectasia) and skin cancer. Skin cancer often occurs before the child is 5 years old.
Sunburn that does not heal after just a little bit of sun exposure
Blistering after just a little bit of sun exposure
Most persons with this condition die of skin cancer early in adulthood.
Change in appearance of skin (disfigurement)
Calling your health care provider
Call for an appointment with your health care provider if you or your child has symptoms of xeroderma pigmentosa.
Experts recommend genetic counseling for persons with a family history of xeroderma pigmentosa who wish to have children.
Abeloff MD, Armitage JO, Niederhuber JE, Kastan MB, McKena WG. Clinical Oncology. 3rd ed. Orlando, Fl: Churchill Livingstone; 2004.
Kumar V, Abbas AK, Fausto N. Robbins and Cotran Pathologic Basis of Disease. 7th ed. St. Louis, Mo: WB Saunders; 2005.
Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
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