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 ?
While Charlie stands confused at the front door, a friend of Katie's explains that she has xeroderma pigmentosum.
In a letter telling her about the award, Prime Minister Theresa May said: "By drawing on your own experiences as a family, you are providing vital support and guidance to patients and families living with xeroderma pigmentosum.
Xeroderma pigmentosum complementation group D polymorphism toward lung cancer susceptibility survival and response in patients treated with platinum chemotherapy.
Keywords: Xeroderma Pigmentosum-Cockayne Syndrome complex (XP-CS), Xeroderma Pigmentosum (XP), Cockayne Syndrome (CS)
Directed by Scott Speer, this English language remake of a 2006 Japanese film quickly distils the facts about a recessive condition called xeroderma pigmentosum (XP), which is triggered by exposure to sunlight.
In Midnight Sun , Thorne's character Katie Price is plagued by a rare genetic disease called xeroderma pigmentosum that causes extreme sensitivity to sunlight.
In addition to cumulative sun exposure, other risk factors for AK include fair skin, advanced age, exposure to carcinogens, prolonged immunosuppression, and genetic conditions affecting DNA repair mechanisms such as xeroderma pigmentosum [5].
GGR is a process which detects DNA sequence damage by XPC proteins (xeroderma pigmentosum complementation group C) and XPE (xeroderma pigmentosum complementation group E) [79, 80].
In the differential diagnosis, Bazex-Dupre-Christol syndrome, Muir-Torre syndrome, Rombo syndrome, multiple papular trichoepitheliomata, and xeroderma pigmentosum should be considered.
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.
This outcome occurred, at least in part, because an enzyme that repairs UV-damaged skin - xeroderma pigmentosum group A (XPA) - shifted its daily cycle to be less active in the day.

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