xeroderma pigmentosum


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xeroderma pig·men·to·sum

 (pĭg′mən-tō′səm)
n.
A rare hereditary skin disorder caused by a defect in the enzymes that repair DNA damaged by ultraviolet light.

[New Latin xēroderma pigmentōsum : xēroderma, xeroderma + pigmentōsum, neuter of pigmentōsus, of pigment.]
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.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
xeroderma, xerodermia - a mild form of ichthyosis characterized by abnormal dryness and roughness of the skin
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References in periodicals archive ?
A study examining light sources in the environment of a child with xeroderma pigmentosum suggested that indoor lights emit unexpected amounts of UV light as measured by a spectral radiometer.
The youngest age of presentation in case of females was 28 years, while in males the corresponding age was 50 years excluding the case of xeroderma pigmentosum of 18-year-old female.
Ali wants to get Jan out of Turkey and to the United States, perhaps to Sacramento, which has a population of children with the disease as well as an xeroderma pigmentosum family support group.
Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin.
And well done to his mum Nicola who has written a story to help him - and other kids - to understand his condition, xeroderma pigmentosum.
In terms of the cellular NER, excision repair crosscomplementation group 1 (ERCC1) nuclease forms a heterodimer with exicision repair cross-complemenentation group 4 (ERCC4, also known as xeroderma pigmentosum, complementation group F) and accomplishes repair of bulky DNA-platinum adducts (6-8).
Xeroderma Pigmentosum group D 751 polymorphism as a predictive factor in resected gastric cancer treated with chemo-radiotherapy.
Several investigators subsequently established that humans suffering from the rare autosomal recessive disease xeroderma pigmentosum (XP) are defective in NER and consequently suffer an enormously increased risk of developing skin cancer following exposure to sunlight.
The variant form of human syndrome Xeroderma Pigmentosum (XP-V) is caused by mutations in DNA polymerase (hpoln).
17) In addition, patients with certain rare, genetic skin diseases, such as xeroderma pigmentosum (XP), are also at increased risks of developing skin cancers in sun-exposed body sites at early ages.
Pre-malignant conditions like oral leukoplakia, cervical dysplasia and xeroderma pigmentosum have been treated in chemopreventive trials with 13-cis-RA(Retinoic Acid).
Dorey and Yolanda Nez are a married Navajo couple who bear an unjust burden: their daughter (Leanndra, 16) and her younger brother (who passed away at age 11) were both born with Xeroderma Pigmentosum, also known as XP.

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