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Xeroderma pigmentosa - All Information

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:

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.

Symptoms:

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)

Signs and tests:

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:

Amniocentesis
Chorionic villous sampling
Culture of amniotic cells

The following tests can help diagnose the disorder after the birth of the child:

Culture of skin fibroblasts
Skin biopsy

Treatment:

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.

Support Groups:

Xeroderma Pigmentosum Society -- www.xps.org

XP Family Support Group -- www.xpfamilysupport.org

Expectations (prognosis):

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

Complications:

Change in appearance of skin (disfigurement)
Skin cancer

Calling your health care provider:

Call for an appointment with your health care provider if you or your child has symptoms of xeroderma pigmentosa.

Prevention:

Experts recommend genetic counseling for persons with a family history of xeroderma pigmentosa who wish to have children.

Chromosomes and DNA

Reviewed last on: 5/13/2011
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.

References

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.

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