Rothmund Thomson syndrome is a rare autosomal recessive skin disorder. The
main clinical feature is poikiloderma appearing in early childhood associat
ed with skeletal abnormalities. Early occurrence of malignancies is another
relevant feature. Here we describe the clinical features of 2 patients wit
h Rothmund Thomson syndrome who were investigated for the in vitro DNA repa
ir capacities of blood cells following UVC radiation exposure. DNA excision
repair, assessed with unscheduled DNA synthesis following UVC exposure, wa
s decreased in both patients, Such a defect might explain the patients' sen
sitivity to sunlight and the relatively high risk of cancer associated with
this syndrome.