Decrease (-) Restore Default Increase (+)
Bookmark and Share

Related Information

Search Health Information   
 

Xeroderma pigmentosa

Definition

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:

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.

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.


Review Date: 5/13/2011
Reviewed 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.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
adam.com
 

Medical Care

Cancer
Pregnancy & Prenatal Classes
Weight Loss
Orthopedics
Heart Disease
Neurology
Women's Health
More Medical Care

Locations

Hospitals
Immediate Care
Health Centers
Emergency Room
Doctors Offices
Specialists
Affiliate Hospitals

Patients and Visitors

MyChart
Pay Your Bill
Request an Appointment
Get Healthy
Support Groups
Fitness Groups
Mobile Applications
Clinical Trials
Online Nursery
Classes and Events
Send an eCard
Patient Stories
Places to Stay

About Us

Quality Report 
Careers
Ways to Help
Community Outreach
Contact Us
(502) 629-1234

Connect with us

© 2014 Norton Healthcare
Serving Kentucky and Southern Indiana