Learn About Xeroderma Pigmentosum

What is the definition of 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.

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What are the causes of Xeroderma Pigmentosum?

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.

What are the symptoms of Xeroderma Pigmentosum?

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, resembling severe aging
  • 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:

  • Dry eye
  • Clouding of the cornea
  • Ulcers of the cornea
  • Swelling or inflammation of the eyelids
  • Cancer of eyelids, cornea or sclera

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

  • Intellectual disability
  • Delayed growth
  • Loss of hearing
  • Muscle weakness of the legs and arms
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What are the current treatments for Xeroderma Pigmentosum?

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 the highest SPF you can find.
  • 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.

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What are the support groups for Xeroderma Pigmentosum?

More information and support for people with XP and their families can be found at:

  • National Organization for Rare Disorders – rarediseases.org/rare-diseases/xeroderma-pigmentosum/
  • Xeroderma Pigmentosum Society – www.xps.org
What is the outlook (prognosis) for Xeroderma Pigmentosum?

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

When should I contact a medical professional for Xeroderma Pigmentosum?

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

How do I prevent Xeroderma Pigmentosum?

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

Chromosomes and DNA
What are the latest Xeroderma Pigmentosum Clinical Trials?
Cancer Risk in Xeroderma Pigmentosum Heterozygotes

Summary: This study will determine if family members of patients with xeroderma pigmentosum (XP) have various abnormalities, including: skin abnormalities; nervous system abnormalities, such as hearing problems; skin, eye, or internal cancers, or other changes. XP is a rare inherited disease that involves an inability to repair damage to cell DNA (genetic material). It can affect several organ systems, inc...

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Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy

Summary: Four rare genetic diseases, xeroderma pigmentosum (XP), Cockayne syndrome (CS), the XP/CS complex and trichothiodystrophy (TTD) have defective DNA excision repair although only XP has increased cancer susceptibility. We plan to perform careful clinical examination of selected patients with XP, XP/CS, CS, or TTD and follow their clinical course. We will obtain tissue (skin, blood, hair, buccal swab...

What are the Latest Advances for Xeroderma Pigmentosum?
Radiation therapy for squamous cell cancer of the skin in a patient with xeroderma pigmentosum.
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Who are the sources who wrote this article ?

Published Date: April 14, 2021
Published By: Elika Hoss, MD, Senior Associate Consultant, Mayo Clinic, Scottsdale, AZ. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Bender NR, Chiu YE. Photosensitivity. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 675.

Patterson JW. Disorders of epidermal maturation and keratinization. In: Patterson JW, ed. Weedon's Skin Pathology. 5th ed. Philadelphia, PA: Elsevier; 2021:chap 10.