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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. Some people also develop nervous system problems.

  • Causes
    • Xeroderma pigmentosum is an autosomal recessive disorder. This means you must have 2 copies of an abnormal gene in order for the disease or trait to develop. So, the disorder is inherited from both your mother and father.

      Ultraviolet light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in people 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.

  • Symptoms
  • 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 xeroderma pigmentosum.

      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 this condition need total protection from sunlight. Even the light coming through windows or from fluorescent bulbs is dangerous.

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

      Use sunscreen and very dark UV sunglasses. Your provider may prescribe medicine to help prevent certain precancerous growths from becoming skin cancers.

      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
  • Outlook (Prognosis)
    • Over 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 xeroderma pigmentosum.

  • Prevention
    • Experts recommend genetic counseling for people 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. Dermatology. 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. Cancer of the Skin. 2nd ed. Philadelphia, PA: Elsevier Saunders; 2011:chap 33.

      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.