title: A case of Rothmund-Thomson syndrome with reduced DNA repair capacity.
abstract: BACKGROUND
  Rothmund-Thomson syndrome is an autosomal recessively inherited disease with multiple skin disorders, and little has been known about the cause of the clinical features. We cultured the cells from a patient with Rothmund-Thomson syndrome and examined the ultraviolet repair characteristics.
  
  
  METHODS
  A 5-year-old boy with Rothmund-Thomson syndrome is presented. He has had reticular pigmentation and hypopigmentation on his cheeks, upper aspect of the trunk, palms, and soles since 6 months of age. Cells originating from the patient had reduced unscheduled DNA synthesis, 37% of normal, after exposure to ultraviolet C (predominantly at 254 nm), and they were slightly more sensitive to ultraviolet C than were normal cells in cell ultraviolet survival.
  
  
  CONCLUSIONS
  Such repair deficiency might account for the mild sun sensitivity in early childhood. Heterogeneity in the repair mechanism as well as in clinical features in this syndrome was suggested.
authors.affiliation: Department of Dermatology, Faculty of Medicine, Kyoto University, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Shinya
authors.forename: C
authors.initials: C
authors.lastname: Nishigori
authors.forename: S
authors.initials: S
authors.lastname: Moriwaki
authors.forename: H
authors.initials: H
authors.lastname: Takebe
authors.forename: M
authors.initials: M
authors.lastname: Kubota
authors.forename: A
authors.initials: A
authors.lastname: Ogino
authors.forename: S
authors.initials: S
authors.lastname: Imamura
mesh_terms: D002478:Cells, Cultured; D002675:Child, Preschool; D004247:DNA / Q000096:biosynthesis; D004260:DNA Repair / Q000528:radiation effects; D006801:Humans; D008297:Male; D011038:Rothmund-Thomson Syndrome / Q000235:genetics*; D014466:Ultraviolet Rays
chemical_list: D004247:DNA