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.
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.
The doctor will perform a physical exam and ask if you have a family history of xeroderma pigmentosa.
An eye exam may show:
The following tests can help diagnose the condition in a baby before the birth:
The following tests can help diagnose the disorder after the birth of the child:
Children with this condition need total protection from sunlight. Even the light coming through windows and fluorescent bulbs is dangerous.
When these children must go out in the sun, they should wear protective clothing.
Wear high protection (SPF 70 or greater) sunscreen and very dark, UV-protected glasses. Your doctor may prescribe medicine to help prevent certain skin cancers.
Xeroderma Pigmentosum Society -- www.xps.org
XP Family Support Group -- www.xpfamilysupport.org
Most persons with this condition die of skin cancer early in adulthood.
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.
Updated by: 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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