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Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

Ava G ChappellElizabeth P ChaseBeverly ChangEric CunninghamFred MihmAntoanella CalameGary FudemBari Cunningham
Published in: Pediatric dermatology (2016)
Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger.
Keyphrases
  • dna repair
  • dna damage
  • dna damage response
  • young adults
  • mental health
  • intellectual disability
  • low grade
  • autism spectrum disorder
  • oxidative stress