[Rothmund-Thomson syndrome with reduced DNA repair capacity].
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.
Prache-de-Carrère
B
B
Service de Dermatologie, Hôpital Necker-Enfants Malades, Paris.
Teillac-Hamel
D
D
Capesius
C
C
Castelneau
J P
JP
Robert
C
C
Fraitag
S
S
de Prost
Y
Y
D002675:Child, Preschool; D004260:DNA Repair; D005260:Female; D006801:Humans; D010787:Photosensitivity Disorders / Q000209:etiology*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics* / Q000473:pathology
Syndrome de Rothmund-Thomson avec anomalie de l'excision-réparation de l'ADN.