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Xeroderma pigmentosum

Xeroderma pigmentosum (XP) is a rare condition passed down through families. XP causes the skin and tissue covering the eye to be extremely sensitive to ultraviolet (UV) light. Some people also develop nervous system problems.

Causes

XP is an autosomal recessive inherited disorder. This means you must have 2 copies of an abnormal gene in order for the disease or trait to develop. The disorder is inherited from both your mother and father at the same time. The abnormal gene is rare, so the chances of both parents having the gene are very rare. For this reason, it is unlikely for somebody with the condition to pass it on to the next generation, although it is possible.

UV light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in people with XP, the body does not fix the damage. As a result, the skin gets very thin and patches of varying color (splotchy pigmentation) appear.

Symptoms

Symptoms usually appear by the time a child is 2 years old.

Skin symptoms include:

Eye symptoms include:

Nervous system (neurologic) symptoms, which develop in some children, include:

Exams and Tests

The health care provider will perform a physical exam, paying special attention to the skin and eyes. The provider will also ask about a family history of XP.

Tests that may be done include:

  • Skin biopsy in which skin cells are studied in the laboratory
  • DNA testing for the problem gene

The following tests can help diagnose the condition in a baby before the birth:

Treatment

People with XP need total protection from sunlight. Even the light coming through windows or from fluorescent bulbs can be dangerous.

When out in the sun, protective clothing must be worn.

To protect the skin and eyes from the sunlight:

  • Use sunscreen with an SPF 15 or higher.
  • Wear long-sleeve shirts and long pants.
  • Wear sunglasses that block UVA and UVB rays. Teach your child to always wear sunglasses when outdoors.

To prevent skin cancer, the provider may prescribe medicines, such as a retinoid cream, to apply to the skin.

If skin cancer develops, surgery or other methods will be done to remove the cancer.

Support Groups

These resources can help you know more about XP:

Outlook (Prognosis)

Over one half of people with this condition die of skin cancer early in adulthood.

When to Contact a Medical Professional

Call for an appointment with the provider if you or your child has symptoms of XP.

Prevention

Experts recommend genetic counseling for people with a family history of XP who wish to have children.

References

Patterson JW. Disorders of epidermal maturation and keratinization. In: Patterson JW, ed. Weedon's Skin Pathology. 4th ed. Philadelphia, PA: Elsevier Churchill Livingstone; 2016:chap 9.

Tamura D, Kraemer KH, DiGiovanna JJ. Xeroderma pigmentosum. In: Lebwohl MG, Heymann WR, Berth-Jones J, Coulson I, eds. Treatment of Skin Disease: Comprehensive Therapeutic Strategies. 4th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 249.

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  • Chromosomes and DNA - illustration

    Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.

    Chromosomes and DNA

    illustration

  • Chromosomes and DNA - illustration

    Humans typically have 23 pairs of chromosomes, or 46 chromosomes in total. Chromosomes are made up of long strands of DNA, which contain all the body's genes.

    Chromosomes and DNA

    illustration

 

Review Date: 5/2/2017

Reviewed By: David L. Swanson, MD, Vice Chair of Medical Dermatology, Associate Professor of Dermatology, Mayo Medical School, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

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