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Xeroderma pigmentosum

 

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

 

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

Skin symptoms include:

  • 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 )
  • Skin cancer at a very young age (including melanoma , basal cell carcinoma , squamous cell carcinoma )

Eye symptoms include:

  • Clouding of the cornea
  • Ulcers of the cornea
  • Swelling or inflammation of the eyelids

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

  • Intellectual disability
  • Delayed growth
  • Loss of hearing
  • Muscle weakness of the legs and arms

 

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:

  • Amniocentesis
  • Chorionic villous sampling
  • Culture of amniotic cells

 

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

 

Xeroderma Pigmentosum Society -- www.xps.org

XP Family Support Group -- www.xpfamilysupport.org

 

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.

 

 

Open References

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.

 
  • Chromosomes and DNA

    Chromosomes and DNA - illustration

    Humans typically have 23 pairs 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

      Chromosomes and DNA - illustration

      Humans typically have 23 pairs 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

    A Closer Look

     
       

      Review Date: 4/14/2015

      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, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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