A human subject with a new defect in repair of ultraviolet damage

J Invest Dermatol. 1978 Apr;70(4):173-7. doi: 10.1111/1523-1747.ep12541290.

Abstract

The subject under study (11961) is a child with extreme sun sensitivity. Fibroblasts derived from the child's skin, like those from patients with the disorder xeroderma pigmentosum were hypersensitive to the lethal effects of 254 nm and 310 nm UV-irradiation. Unlike xeroderma pigmentosum cells, however, fibroblasts from our subject were not hypersensitive to the chemical mutagen N-hydroxyacetylaminofluorene but they were hypersensitive to ethylmethanesulfonate. Furthermore, despite the ultra violet light sensitivity, no defects could be detected either in excision or postreplication repair of damaged DNA after UV-irradiation of 11961 cells. This again contrasts with xeroderma pigmentosum cells, which are defective in one or the other of these repair processes. On the basis of these characteristics and the clinical symptoms, we are not at present able to classify this patient as having any of the known sun-sensitive syndromes.

Publication types

  • Case Reports

MeSH terms

  • Cell Survival / radiation effects
  • DNA Repair / radiation effects*
  • Fibroblasts / metabolism
  • Fibroblasts / radiation effects
  • Humans
  • Infant
  • Male
  • Photosensitivity Disorders / metabolism
  • Photosensitivity Disorders / pathology
  • Skin / metabolism
  • Skin / pathology
  • Sunburn / metabolism
  • Sunburn / pathology*
  • Ultraviolet Rays / adverse effects*
  • Xeroderma Pigmentosum / pathology