Xeroderma pigmentosum

Overview

What is xeroderma pigmentosum?

Xeroderma pigmentosum (XP) is a rare disorder. It is a genetic disorder. This means that people have a problem in a specific gene or genes. People have about 20,000-25,000 genes in their bodies. Genes are like our body's instruction manual - they control the growth, development and normal function of the body. People with XP have alteration (mutation) in one of at least 8 different genes. All forms of XP are characterized by an extreme sensitivity to sunlight and ultraviolet rays and some types of artificial lighting. Unless proper precautions are taken, people with XP will develop severe redness and blistering of the skin. People with XP are at risk of skin cancer if proper precautions are not taken. The eyes can be damaged as well and, if untreated, vision loss and blindness can occur. People with XP cannot go outside during the day unless they are wearing special suits that block sunlight. Precautions need to be taken indoors as well. A subset of individuals will develop neurological problems or hearing loss. XP is broken down in eight subtypes called complementation groups based on the specific gene that is altered. These genes create proteins that are involved in the repair of DNA damage caused by exposure to the ultraviolet rays of sunlight. Sunlight damages the DNA in the skin. This happens to everyone. In people without XP, the body can repair this damage. People with XP cannot properly repair this damage, making them extremely sensitive to sunlight and certain forms of artificial light.

To find support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments, it can be useful to reach out to an XP support group: the Xeroderma Pigmentosum Society; the XP Family Support Group; or the XP Support Group.

There is also a very good webpage about xeroderma pigmentosum for doctors that can be found at Gene Reviews - xeroderma pigmentosum.

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • https://www.thinkgenetic.com/diseases/xeroderma-pigmentosum/overview/60175 • DATE UPDATED: 2016-10-28

References

Kraemer KH, DiGiovanna JJ. Xeroderma Pigmentosum. GeneReviews website. Accessed October 22, 2016. https://www.ncbi.nlm.nih.gov/books/NBK1397/

Xeroderma Pigmentosum. Genetics Home Reference website. Accessed October 22, 2016. https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum

Lehmann AR, McGibbon D, Stefanini M. Xeroderma Pigmentosum. Orphanet J Rare Dis. 2011;6:70. http://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-70

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