Radiation Oncology/Cancer Syndromes/Xeroderma pigmentosum

Xeroderma Pigmentosum

  • Defect in nucleotide excision repair (NER) pathway
  • Compromised ability to repair UV damage
  • Multiple skin malignancies at a young age; most common causes of death are melanoma and skin squamous cell carcinoma
  • Autosomal recessive

  • Brighton, UK; 2008 PMID 18079351 -- "Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts." (Arlett CF, Br J Radiol. 2008 Jan;81(961):51-8.)