Definition of xeroderma pigmentosum in English:

xeroderma pigmentosum

noun

  • [mass noun] A rare hereditary defect of the enzyme system that repairs DNA after damage from ultraviolet rays, resulting in extreme sensitivity to sunlight and a tendency to develop skin cancer.

    • ‘In addition, a group of five xeroderma pigmentosum patients were included in the study.’
    • ‘An inherited defect in one of the various proteins involved in nucleotide excision repair causes the disease xeroderma pigmentosum, and enormously increases the risk of skin cancer following sun exposure.’
    • ‘The xeroderma pigmentosum derived fibroblast cell line spectra also showed non-significant results when compared with each other.’
    • ‘Further evidence for the importance of DNA repair processes in skin cancer induction stems from numerous observations in patients suffering from xeroderma pigmentosum.’
    • ‘We therefore investigated the induction and removal of formaldehyde-induced DPC in a normal human cell line in comparison with a xeroderma pigmentosum cell line and a Fanconi anaemia cell line.’
    • ‘A well-known example is xeroderma pigmentosum patients, who are deficient in excision repair and have a high incidence of skin cancer on exposure to sunlight.’
    • ‘Defects in NER are known in humans, in the form of the rare genetic disease xeroderma pigmentosum, which is characterized by extreme sun sensitivity and skin cancer incidence.’
    • ‘In humans, NER-defective individuals are affected by xeroderma pigmentosum a disorder associated with hypersensitivity to sunlight and a 1,000-fold increase in the occurrence of skin cancer as compared to normal individuals.’
    • ‘In 1890-1892, Berliner and Wolters declared that chemical rays were responsible for sunburn, xeroderma pigmentosum and Hutchinson's summer eruptions.’
    • ‘Researchers at UT Southwestern Medical Center at Dallas have successfully tested the first gene therapy for skin cancer, using a mouse model for the disease xeroderma pigmentosum, or XP.’
    • ‘Trial use of the UV monitor by five xeroderma pigmentosum patients started in June 2000 and was carried out for 1 year.’
    • ‘Examination of light sources in the home and school of a child with xeroderma pigmentosum revealed that several different types emitted surprising levels of UV.’
    • ‘The explosion of research on DNA repair dates back less than a decade, to the demonstration that some colon cancer and xeroderma pigmentosum are linked to faulty DNA repair.’
    • ‘It contains information about over 800 rare disorders, ranging from abdominal extrophies to xeroderma pigmentosum, and it includes details of support groups, regional genetic centres, and other helpful organisations.’
    • ‘The prevalence of CC TT transitions reported here is the highest observed in any cancer type and matches that of skin cancers in subjects with xeroderma pigmentosum, an inherited disease with hypersensitivity to UV damage.’
    • ‘While not freckling in the usual sense of the word, the rare genetic condition xeroderma pigmentosum resembles freckling in some ways.’
    • ‘This is in line with the findings of nucleotide excision repair in cells from patients with xeroderma pigmentosum complementation group C.’
    • ‘DNA repair of bulky adducts is essential for a normal life, as demonstrated by the existence of rare but dramatic diseases, such as xeroderma pigmentosum, associating DNA repair deficiency and a high cancer proneness.’

Origin

Late 19th century: pigmentosum, neuter of Latin pigmentosus pigmented.

Pronunciation:

xeroderma pigmentosum

/ˌpɪɡmɛnˈtəʊsəm/