Medical Encyclopedia

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Xeroderma pigmentosa

Contents of this page:

Illustrations

Chromosomes and DNA
Chromosomes and DNA

Definition    Return to top

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    Return to top

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    Return to top

Exams and Tests    Return to top

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:

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

Treatment    Return to top

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    Return to top

Xeroderma Pigmentosum Society -- www.xps.org

XP Family Support Group -- www.xpfamilysupport.org

Outlook (Prognosis)    Return to top

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

Possible Complications    Return to top

When to Contact a Medical Professional    Return to top

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

Prevention    Return to top

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

References    Return to top

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.

Update Date: 5/7/2009

Updated by: 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.

A.D.A.M. Logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 1997-2009, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.