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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.

Overview

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

References

  1. Xeroderma pigmentosum. Genetics Home Reference (GHR). May 2010; http://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum.
  2. Kenneth H Kraemer and John J DiGiovanna. Xeroderma Pigmentosum. GeneReviews. February 13, 2014; https://www.ncbi.nlm.nih.gov/books/NBK1397/.
  3. Berman K. Xeroderma pigmentosum. MedlinePlus. April 14, 2015; https://www.nlm.nih.gov/medlineplus/ency/article/001467.htm.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Xeroderma pigmentosum. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
  • The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers. 
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
  • The Clinical Center at the National Institutes of Health (NIH) has published an online information page about xeroderma pigmentosum. Visit the above link to access this information.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Xeroderma pigmentosum. Click on the link to view a sample search on this topic.
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.