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[Rothmund-Thomson syndrome with reduced DNA repair capacity]
B Prache-de-Carrère1, D Teillac-Hamel, C Capesius
1Service de Dermatologie, Hôpital Necker-Enfants Malades, Paris.
Introduction:
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.
Case Report:
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.
Discussion:
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.