A case of xeroderma pigmentosum group D determined by photobiological study

J Dermatol. 1991 Jan;18(1):31-5. doi: 10.1111/j.1346-8138.1991.tb03035.x.

Abstract

A case of xeroderma pigmentosum group D in 36-year-old woman (XP85TO) is reported. The patient had severe photosensitivity from age 4, and developed multiple basal cell epitheliomas and solar keratoses but exhibited no apparent neurological defects. A skin phototest by monochromatic ultraviolet light revealed a delayed peak of erythema 48 h after irradiation and lowered minimal erythemal doses. Unscheduled DNA synthesis induced in XP85TO cells was 36.0% in dermal fibroblasts and 32.6% in epidermal keratinocytes compared with normal cells. The XP85TO cells were sensitive to ultraviolet killing (n = 1.0, D0 = 0.80 J/m2). In complementation analysis, XP85TO cells did not complement with xeroderma pigmentosum group D cells. These results indicate that patient XP85TO had xeroderma pigmentosum group D. The Japanese group D patients including XP85TO case showed delayed onset of skin malignant tumors and neurological abnormalities, compared with the group D patients in Europe and the United States. These findings suggest a possible ethnic variation of the clinical phenotype, despite the similar repair defect and ultraviolet hyperssensitivity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Age Factors
  • Carcinoma, Basal Cell / pathology
  • Cells, Cultured
  • DNA / biosynthesis
  • DNA / radiation effects
  • DNA Repair
  • Female
  • Humans
  • Japan
  • Skin Neoplasms / pathology
  • Xeroderma Pigmentosum / genetics*
  • Xeroderma Pigmentosum / pathology

Substances

  • DNA