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Diseases

Genetic and Rare Diseases Information Center (GARD)

Xeroderma pigmentosum


Other Names for this Disease
  • XP
  • Xeroderma pigmentosa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

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 by the time a child is 2 years old.[1][2][3] Xeroderma pigmentosum is caused by mutations in genes that are involved in repairing damaged DNA.[1][2] Inherited mutations in at least nine genes have been identified.[2] The condition is inherited in an autosomal recessive manner.[1][2] People with XP need total protection from sunlight. This includes protective clothing, sunscreen, and dark sunglasses when out in the sun. To prevent skin cancer, medications like retinoid creams may be prescribed. Skin cancers that do develop should be treated using standard practices.[3]
Last updated: 6/24/2016

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][3][4]   
  • 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 frozen with liquid nitrogen. Larger areas of sun-damaged skin can be treated with topical 5-fluorouracil or imiquimod. In rare cases, therapeutic dermatome shaving or dermabrasion is used to remove damaged superficial epidermal layers. Skin cancers can be treated using standard treatment protocols, including electrodesiccation and curettage (scrapes away the lesion and uses electricity to kill any remaining cells), surgical excision, or chemosurgery. High dose oral isotretinoin or acitretin can be used to prevent new cancers. Cancers of the eyelids, conjunctiva, and cornea are usually treated surgically. Corneal transplantation may be necessary for those with severe keratitis and corneal opacity.[2]

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

Last updated: 6/24/2016

References
Other Names for this Disease
  • XP
  • Xeroderma pigmentosa
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.