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Genetic and Rare Diseases Information Center (GARD)

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Xeroderma pigmentosum

Other Names for this Disease
  • Xeroderma pigmentosa
  • XP
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Your Question

It there a cure for xeroderma pigmentosum? If there's no cure, can it at least be treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is xeroderma pigmentosum?

Xeroderma pigmentosum (XP) is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. Symptoms typically develop in infancy or early childhood. Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA. Inherited mutations in at least eight genes have been identified. The condition is inherited in an autosomal recessive manner.[1]
Last updated: 10/21/2010

Can xeroderma pigmentosum (XP) be cured (or at least treated)?

There is no cure for XP, but there are ways to prevent and treat some of the problems associated with it. Some of the strategies employed in the management of XP include:[2] 
  • Protection from ultraviolet light
  • Frequent skin and eye examinations
  • Prompt removal of cancerous tissue
  • Neurological examination
  • Psychosocial care

Small, premalignant skin lesions such as actinic keratoses can be treated with topical 5-fluorouracil or frozen with liquid nitrogen. Larger areas of skin involvement may be treated with dermatome shaving or dermabrasion to remove damaged superficial epidermal layers. Skin cancers can be treated with electrodesiccation and curettage (scrapes away the lesion and uses electricity to kill any remaining cells), surgical excision, or chemosurgery. High dose oral isotretinoin can be used to prevent new cancers. Cancers of the eyelids, conjunctiva, and cornea should be treated surgically. Corneal transplantation may be necessary for those with severe keratitis and corneal opacity.[3]

More detailed information about the treatment of XP may be accessed through the following online resources:

Last updated: 10/21/2010