Xeroderma pigmentosa

Definition of Xeroderma pigmentosa

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

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.

Signs and tests

The doctor will perform a physical exam and ask if you have a family history of xeroderma pigmentosa.

Treatment

Children with this condition need total protection from sunlight. Even the light coming through windows and fluorescent bulbs is dangerous.

Expectations (prognosis)

Most persons with this condition die of skin cancer early in adulthood.

Review

Michael Lehrer, MD, Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, Pa. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc. – 5/7/2009

Chromosomes and DNA

ADAM Medical Encyclopedia

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