Definitions for Xeroderma Pigmentosum
xe·ro·der·ma pig·men·to·sum

Princeton's WordNetRate this definition:0.0 / 0 votes

1. xeroderma pigmentosumnoun

   a rare genetic condition characterized by an eruption of exposed skin occurring in childhood and photosensitivity with severe sunburn; inherited as a recessive autosomal trait in which DNA repair processes are defective so they are more likely to chromosome breaks and cancers when exposed to ultraviolet light

WiktionaryRate this definition:0.0 / 0 votes

1. xeroderma pigmentosumnoun

   A rare genetic disorder in which DNA damaged by ultraviolet light is not repaired and the skin becomes sensitive to such light; a skin cancer that can subsequently develop

2. Etymology: From ξηρός δέρμα and pigmentosus.

WikipediaRate this definition:0.0 / 0 votes

1. Xeroderma pigmentosum

   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. 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. Nervous system problems, such as hearing loss, poor coordination, loss of intellectual function and seizures, may also occur. Complications include a high risk of skin cancer, with about half having skin cancer by age 10 without preventative efforts, and cataracts. There may be a higher risk of other cancers such as brain cancers.XP is autosomal recessive, with mutations in at least nine specific genes able to result in the condition. Normally, the damage to DNA which occurs in skin cells from exposure to UV light is repaired by nucleotide excision repair. In people with xeroderma pigmentosum, this damage is not repaired. As more abnormalities form in DNA, cells malfunction and eventually become cancerous or die. Diagnosis is typically suspected based on symptoms and confirmed by genetic testing.There is no cure for XP. Treatment involves completely avoiding the sun. This includes protective clothing, sunscreen and dark sunglasses when out in the sun. Retinoid creams may help decrease the risk of skin cancer. Vitamin D supplementation is generally required. If skin cancer occurs, it is treated in the usual way. The life expectancy of those with the condition is about 30 years less than normal.The disease affects about 1 in 100,000 worldwide. 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. It occurs equally commonly in males and females. Xeroderma pigmentosum was first described in the 1870s by Moritz Kaposi. In 1882, Kaposi coined the term xeroderma pigmentosum for the condition, referring to its characteristic dry, pigmented skin. Individuals with the disease have been referred to as "children of the night" or "moon children".

ChatGPTRate this definition:0.0 / 0 votes

1. xeroderma pigmentosum

   Xeroderma Pigmentosum is a rare and inherited skin disorder characterized by extreme sensitivity to sunlight, causing skin damage and an increased risk of skin cancers. This condition disrupts the body's ability to repair DNA damage caused by ultraviolet (UV) light, leading to changes in skin pigmentation, premature aging, and various eye disorders. It generally appears in early childhood and can also affect the nervous system in some cases.

WikidataRate this definition:1.0 / 1 vote

1. Xeroderma pigmentosum

   Xeroderma pigmentosum, or XP, is an autosomal recessive genetic disorder of DNA repair in which the ability to repair damage caused by ultraviolet light is deficient. In extreme cases, all exposure to sunlight must be forbidden, no matter how small; as such, individuals with the disease are often colloquially referred to as Children of the Night. Multiple basal cell carcinomas and other skin malignancies frequently occur at a young age in those with XP. In fact, metastatic malignant melanoma and squamous cell carcinoma are the two most common causes of death in XP victims. This disease involves both sexes and all races, with an incidence of 1:250,000 and a gene frequency of 1:200. XP is roughly six times more common in Japanese people than in other groups. The most common defect in xeroderma pigmentosum is an autosomal recessive genetic defect in which nucleotide excision repair enzymes are mutated, leading to a reduction in or elimination of NER. If left unchecked, damage caused by ultraviolet light can cause mutations in individual cell's DNA. If tumor suppressor genes or proto oncogenes are affected, the result may be cancer. Patients with XP are at a high risk for developing skin cancers, such as basal cell carcinoma, for this reason.

U.S. National Library of MedicineRate this definition:0.0 / 0 votes

1. Xeroderma Pigmentosum

   A rare, pigmentary, and atrophic autosomal recessive disease. It is manifested as an extreme photosensitivity to ULTRAVIOLET RAYS as the result of a deficiency in the enzyme that permits excisional repair of ultraviolet-damaged DNA.

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1. • Xeroderma

How to pronounce Xeroderma Pigmentosum?

1. Alex

   US English

   David

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   Mark

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   Daniel

   British

   Libby

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   Mia

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   Karen

   Australian

   Hayley

   Australian

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   Neerja

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   Oliver

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How to say Xeroderma Pigmentosum in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of Xeroderma Pigmentosum in Chaldean Numerology is: 4

2. Pythagorean Numerology

   The numerical value of Xeroderma Pigmentosum in Pythagorean Numerology is: 3

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=Xeroderma Pigmentosum
2. ^ Wiktionary
   https://en.wiktionary.org/wiki/Xeroderma_Pigmentosum
3. ^ Wikipedia
   https://en.wikipedia.org/wiki/Xeroderma_Pigmentosum
4. ^ ChatGPT
   https://chat.openai.com
5. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=Xeroderma Pigmentosum