Definitions for xeroderma pigmentosum
This page provides all possible meanings and translations of the word xeroderma pigmentosum
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
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
Origin: From ξηρός δέρμα and pigmentosus.
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 Medicine
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.
Find a translation for the xeroderma pigmentosum definition in other languages:
Select another language:
Discuss these xeroderma pigmentosum definitions with the community:
Use the citation below to add this definition to your bibliography:
"xeroderma pigmentosum." Definitions.net. STANDS4 LLC, 2014. Web. 24 Apr. 2014. <http://www.definitions.net/definition/xeroderma pigmentosum>.