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Xeroderma Pigmentosum in the UK

  • Hiva FassihiEmail author
  • Isabel Garrood
  • Natalie Chandler
  • Shehla Mohammed
  • Alan R. Lehmann
  • Robert Sarkany
Chapter

Abstract

The xeroderma pigmentosum (XP) population in the UK is around 100 patients. Since 2010, their medical care has been provided by a single national multidisciplinary clinical service, which cares for patients of all ages.

References

  1. 1.
    Zigmond AS, Snaith RP. The hospital anxiety and depression scale. Acta Psychiatr Scand. 1983;67:361–70.CrossRefGoogle Scholar
  2. 2.
    Beck AT, Steer RA, Brown GK. Manual for the Beck depression inventory-II. San Antonio, TX: The Psychological Corporation; 1996.Google Scholar
  3. 3.
    Broadbent E, et al. The brief illness perception questionnaire. J Psychosom Res. 2006;60(6):631–7.CrossRefGoogle Scholar
  4. 4.
    WHOQOL Group. Development of the World Health Organization WHOQOL-BREF quality of life assessment. Psychol Med. 1998;28(3):551–8.CrossRefGoogle Scholar
  5. 5.
    Folstein MF, Folstein SE, McHugh PR. “Mini-mental state.” a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res. 1975;12:189–98.CrossRefGoogle Scholar
  6. 6.
    Randolph C. Repeatable battery for the assessment of neuropsychological status manual. San Antonio, TX: The Psychological Corporation; 1998.Google Scholar
  7. 7.
    Fassihi H, et al. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci U S A. 2016;113(9):E1236–45.CrossRefGoogle Scholar
  8. 8.
    Sethi M, et al. A distinct genotype of XP complementation group A: surprisingly mild phenotype highly prevalent in northern India/Pakistan/Afghanistan. J Invest Dermatol. 2016;136(4):869–72.CrossRefGoogle Scholar
  9. 9.
    Sethi M, et al. Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. Br J Dermatol. 2013;169(6):1279–87.CrossRefGoogle Scholar
  10. 10.
    Kondo S, et al. Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E and F. Photo-Dermatology. 1989;6(2):89–95.PubMedGoogle Scholar
  11. 11.
    Nishigori C, Fujisawa H, Uyeno K, Kawaguchi T, Takebe H. Xeroderma pigmentosum patients belonging to complementation group F and efficient liquid-holding recovery of ultraviolet damage. Photodermatol Photoimmunol Photomed. 1991;8(4):146–50.PubMedGoogle Scholar
  12. 12.
    Schafer A, et al. Characterization of three XPG-defective patients identifies three missense mutations that impair repair and transcription. J Invest Dermatol. 2013;133(7):1841–9.CrossRefGoogle Scholar

Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Hiva Fassihi
    • 1
    Email author
  • Isabel Garrood
    • 1
  • Natalie Chandler
    • 2
  • Shehla Mohammed
    • 2
  • Alan R. Lehmann
    • 3
  • Robert Sarkany
    • 1
  1. 1.National Xeroderma Pigmentosum Service, St John’s Institute of Dermatology, Guy’s and St Thomas’ NHS Foundation TrustLondonUK
  2. 2.Genetics Department, 5th Floor Tower Wing, Guy’s HospitalLondonUK
  3. 3.Genome Damage and Stability Centre, University of SussexBrightonUK

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