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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.

Treatment

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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:[1][2][3]   
  • 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.[1]

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

Last updated: 6/24/2016

References
  1. Kenneth H Kraemer and John J DiGiovanna. Xeroderma Pigmentosum. GeneReviews. February 13, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1397/.
  2. Berman K. Xeroderma pigmentosum. MedlinePlus. April 14, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001467.htm.
  3. Understanding Xeroderma Pigmentosum. NIH Clinical Center. 2006; http://www.cc.nih.gov/ccc/patient_education/pepubs/xp7_17.pdf.


Management Guidelines

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Clinical Trials & Research for this Disease

  • ClinicalTrials.gov lists trials that are studying or have studied Xeroderma pigmentosum. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
  • The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".
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.