title: [Rothmund-Thomson syndrome with reduced DNA repair capacity].
abstract: BACKGROUND
  Rothmund-Thomson syndrome is a genodermatosis associated with early poikilodermal lesions. The condition usually occurs in children. Features include skeletal deformations and increased risk of malignancy.
  
  
  METHODS
  A 3 and a half year-old girl with poikilodermal lesions predominating in photoexposed areas presented a rash after exposure to sun. The first manifestations occurred during the first months of life. Examination of DNA repair on a culture of UV irradiated fibroblasts showed reduced DNA repair capacity.
  
  
  CONCLUSIONS
  Other childhood photodermatoses were eliminated by the clinical signs. It would be important to know whether there is a correlation between DNA repair and development of neoplasia in Rothmund-Thomson syndrome.
authors.affiliation: Service de Dermatologie, Hôpital Necker-Enfants Malades, Paris.
authors.forename: B
authors.initials: B
authors.lastname: Prache-de-Carrère
authors.forename: D
authors.initials: D
authors.lastname: Teillac-Hamel
authors.forename: C
authors.initials: C
authors.lastname: Capesius
authors.forename: J P
authors.initials: JP
authors.lastname: Castelneau
authors.forename: C
authors.initials: C
authors.lastname: Robert
authors.forename: S
authors.initials: S
authors.lastname: Fraitag
authors.forename: Y
authors.initials: Y
authors.lastname: de Prost
mesh_terms: D002675:Child, Preschool; D004260:DNA Repair; D005260:Female; D006801:Humans; D010787:Photosensitivity Disorders / Q000209:etiology*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics* / Q000473:pathology
vernacular_title: Syndrome de Rothmund-Thomson avec anomalie de l'excision-réparation de l'ADN.