Xeroderma pigmentosum is a rare condition passed down through families in which the skin and tissue covering the eye are extremely sensitive to ultraviolet light. Some people also develop nervous system problems.
Xeroderma pigmentosum is an autosomal recessive disorder. This means you must have 2 copies of an abnormal gene in order for the disease or trait to develop. So, the disorder is inherited from both your mother and father.
Ultraviolet light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in people with xeroderma pigmentosum, the body does not fix the damage. As a result, the skin gets very thin and patches of varying color (splotchy pigmentation) appear.
Symptoms usually appear by the time a child is 2 years old.
Skin symptoms include:
Sunburn that does not heal after just a little bit of sun exposure
Blistering after just a little bit of sun exposure
Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.