Completely avoiding sun or UV rays, retinoid creams, vitamin D[5][6]
Prognosis
Life expectancy is shortened by about 30 years.[7]
Frequency
• 1 in 100,000 (worldwide)[3]
• 1 in 370 (India) [citation needed]
• 1 in 22,000 (Japan)[3]
• 1 in 250,000 (US)[8]
• 1 in 430,000 (Europe)
• 1 in 1,000,000 (UK)[3]
Xeroderma pigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light.[1] Symptoms may include a severe sunburn after only a few minutes in the sun, freckling in sun-exposed areas, dry skin and changes in skin pigmentation.[1] Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur.[1] Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts.[1] There may be a higher risk of other cancers such as brain cancers.[1]
XP is autosomal recessive, with mutations in at least nine specific genes able to result in the condition.[1][6] Normally, the damage to DNA which occurs in skin cells from exposure to UV light is repaired by nucleotide excision repair.[1] In people with xeroderma pigmentosum, this damage is not repaired.[1] As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die.[1] Diagnosis is typically suspected based on symptoms and confirmed by genetic testing.[5]
There is no cure for XP.[6] Treatment involves completely avoiding the sun.[6] This includes protective clothing, sunscreen and dark sunglasses when out in the sun.[6] Retinoid creams may help decrease the risk of skin cancer.[6] Vitamin D supplementation is generally required.[5] If skin cancer occurs, it is treated in the usual way.[6] The life expectancy of those with the condition is about 30 years less than normal.[7]
The disease affects about 1 in 100,000 worldwide.[3] By region, it affects about 1 in 370 in India, 1 in 20,000 in Japan, 1 in 250,000 people in the United States and 1 in 430,000 in Europe.[8] It occurs equally commonly in males and females.[9] Xeroderma pigmentosum was first described in the 1870s by Moritz Kaposi.[5][9] In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin.[9] Individuals with the disease have been referred to as "children of the night" or "moon children".[10]
^ abcdefghijklm"Xeroderma pigmentosum". Genetics Home Reference. U.S. Library of Medicine. 26 June 2018. Retrieved 28 June 2018.
^ ab"Xeroderma pigmentosum". dermnetnz.org. Retrieved 25 February 2020.
^ abcdefgh"Not found". Archived from the original on 2022-10-26. Retrieved 2023-03-06.
^Cite error: The named reference Halpern_2008 was invoked but never defined (see the help page).
^ abcde"Xeroderma Pigmentosum". NORD (National Organization for Rare Disorders). 2017. Retrieved 28 June 2018.
^ abcdefgh"Xeroderma pigmentosum". Genetic and Rare Diseases Information Center (GARD). U.S. Department of Health and Human Services. 2018. Retrieved 28 June 2018.
^ abAhmad S, Hanaoka F (2008). Molecular Mechanisms of Xeroderma Pigmentosum. Springer Science & Business Media. p. 17. ISBN 9780387095998.
Xerodermapigmentosum (XP) is a genetic disorder in which there is a decreased ability to repair DNA damage such as that caused by ultraviolet (UV) light...
allergens such as fragrances, parabens, and lanolin. Eczema Ichthyosis Xerodermapigmentosum Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007)...
result in three different disorders: the cancer-prone syndrome xerodermapigmentosum complementation group D, photosensitive trichothiodystrophy, and...
XPB (xerodermapigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex. The 3D-structure...
caused by lack of or malfunctioning of DNA ligase is as follows. Xerodermapigmentosum, which is commonly known as XP, is an inherited condition characterized...
Xpa mutant individuals often show the severe clinical symptoms of xerodermapigmentosum, a condition involving extreme sensitivity to sunlight and a high...
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diseases that result from in-born genetic mutations of NER proteins. Xerodermapigmentosum and Cockayne's syndrome are two examples of NER associated diseases...
aging diseases" (such as Werner syndrome, Cockayne syndrome or xerodermapigmentosum), progeria may not be directly caused by defective DNA repair. These...
are at greater risk. A number of rare genetic conditions, such as xerodermapigmentosum, also increase the risk. Diagnosis is by biopsy and analysis of...
Atypical fibroxanthoma has also been associated with P53 mutations, xerodermapigmentosum, radiation therapy, trauma, and immunosuppression. Because atypical...
of cancers. An example of such a hereditary cancer syndrome is xerodermapigmentosum, which causes the development of skin cancers in response to even...
will live into adulthood. Xerodermapigmentosum-Cockayne syndrome (XP-CS) occurs when an individual also has xerodermapigmentosum, another DNA repair disease...
character Christopher Snow, who suffers from the genetic disorder Xerodermapigmentosum. Only the first two books have been released; no release date is...
absent, these mutations can lead to human syndromes, including xerodermapigmentosum, Cockayne syndrome and Fanconi anemia. ERCC1 and ERCC4 are the human...
UVRAG gene. This gene complements the ultraviolet sensitivity of xerodermapigmentosum group C cells and encodes a protein with a C2 domain. The protein...
conformation across guanine, which it flips to the syn conformation. Xerodermapigmentosum variant (XPV) cells lack DNA polymerase eta (η). Instead these cells...
the consequence of otherwise rare genetic diseases, for example xerodermapigmentosum, stemming from recessive genes achieving greater dominance. An alternative...
type of change in appearance, but pointed to the skin condition xerodermapigmentosum as an example of a mutation which makes marks on the skin upon exposure...
excinuclease occurs in a rare autosomal recessive disease called xerodermapigmentosum. This disease can cause light-skin, extreme freckling and facial...
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