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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.
Xeroderma pigmentosum is an autosomal recessive disorder. This means you must have two copies of an abnormal gene in order for the disease or trait to develop.
Ultraviolet light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in persons 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.
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
- Spider-like blood vessels under the skin
- Patches of discolored skin that get worse
- Crusting of the skin
- Scaling of the skin
- Oozing raw skin surface
- Discomfort when being in bright light (photophobia)
- Skin cancer
Exams and Tests
The doctor will perform a physical exam and ask if you have a family history of xeroderma pigmentosum.
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 or from fluorescent bulbs is dangerous.
When these children go out in the sun, they need to wear protective clothing.
Use high protection (SPF 70 or greater) sunscreen and very dark, UV sunglasses. Your doctor may prescribe medicine to help prevent certain precancerous growths from becoming skin cancers.
Most persons with this condition die of skin cancer early in adulthood.
- Change in appearance of skin (disfigurement)
- Skin cancer
When to Contact a Medical Professional
Call for an appointment with your health care provider if you or your child has symptoms of xeroderma pigmentosum.
Experts recommend genetic counseling for persons with a family history of xeroderma pigmentosum who wish to have children.
Lim HW, Hawk JLM. Photodermatologic disorders. In: Bolognia JL, Jorizzo JL, Schaffer JV, eds. Dermatology. 3rd ed. Philadelphia, Pa: Elsevier Saunders; 2012:chap 87.
Schadt C, Fine JD. Genetic disorders predisposing to skin malignancy. In: Rigel DS, Robinson JK, Ross M, et al. eds. Cancer of the Skin. 2nd ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 33.
- Last reviewed on 5/15/2013
- Kevin Berman, MD, PhD, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.
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