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.]
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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 ?
Xeroderma pigmentosum group A (XPA) is a genetic disorder in DNA nucleotide excision repair (NER) with severe neurological disorders, in which oxidative stress and disturbed melatonin metabolism may be involved.
For example, Cd(II), Cu(II), Co(II), and Ni(II) inhibit (at concentrations [greater than or equal to] 200 [micro]M) the in vitro DNA-binding activity of the human xeroderma pigmentosum group A protein, a critical damage recognition factor in nucleotide excision repair (Asmuss et al.
Imamura, "Gene alterations and clinical characteristics of xeroderma pigmentosum group A patients in Japan," Archives of Dermatology, vol.

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