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Management of Xeroderma Pigmentosum

  • Deborah Tamura
  • Ryusuke Ono
  • John J. DiGiovanna
  • Kenneth H. KraemerEmail author
Chapter

Abstract

Xeroderma pigmentosum (XP) is a rare, autosomal recessive inherited disease of DNA repair with a high incidence of sunlight-induced cancer of the skin and eye. Approximately half of the patients have marked burning on minimal sun exposure, often resulting in severe blistering in infancy. The other XP patients do not have this exquisite photosensitivity but develop freckle-like pigmentation of the face and other sun exposed sites, frequently before 2 years of age. Overall, XP patients have a more than 10,000-fold increase in frequency of basal cell or squamous cell carcinoma of the skin with a median age of onset of less than 10 years, nearly 60 years younger than in the US general population. There is a similar high frequency of skin melanoma, but the median age is 22 years, which is 33 years younger than in the US general population. About 25% of the XP patients have progressive neurological degeneration, often first appearing as diminished deep tendon reflexes, microcephaly, and high-frequency sensorineural hearing loss. Early recognition of neurological involvement permits use of hearing aids and other assistive devices. Management is based on early diagnosis, rigorous sun protection, and early detection and treatment of skin cancers. Oral retinoids have been demonstrated to prevent new skin cancers but have numerous side effects. Newer therapies such as use of topical bacterial DNA repair enzymes, correction of the DNA repair defect in cultured cells, and topical agents to increase read-through of premature stop codons are under investigation.

Keywords

Xeroderma pigmentosum DNA repair Skin cancer Melanoma Ultraviolet radiation Sun protection Patient advocate groups Rare genetic diseases Neurologic degeneration Cancer in children Sun sensitivity Eye cancer 

Notes

Acknowledgments

This research was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. We thank the XP patients and their families for participation in our research studies.

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Copyright information

© Springer Nature Singapore Pte Ltd. 2019

Authors and Affiliations

  • Deborah Tamura
    • 1
  • Ryusuke Ono
    • 1
  • John J. DiGiovanna
    • 1
  • Kenneth H. Kraemer
    • 1
    Email author
  1. 1.Laboratory of Cancer Biology and Genetics, Center for Cancer ResearchNational Cancer InstituteBethesdaUSA

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