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Xeroderma pigmentosum

Definition

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.

Causes

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.

Symptoms

  • Sunburn that does not heal after just a little bit of sun exposure
  • after just a little bit of sun exposureBlistering
  • Spider-like blood vessels under the skin
  • Patches of discolored skin that get worse
  • Crusting of the skin
  • of the skinScaling
  • 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:

  • 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 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.

Support Groups

Xeroderma Pigmentosum Society | www.xps.org

XP Family Support Group | www.xpfamilysupport.org

Outlook (Prognosis)

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

Possible Complications

  • 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.

Prevention

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

References

Lim HW, Hawk JLM. Photodermatologic disorders. In: Bolognia JL, Jorizzo JL, Schaffer JV, eds. . 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. . 2nd ed. Philadelphia, Pa: Elsevier Saunders; 2011:chap 33.

Encyclopedia content is provided as information only and not intended to replace the advice and instruction from your personal physician.