Rothmund-Thomson syndrome

Rothmund-Thomson syndrome is a rare inherited disorder characterized by poikilodermatous skin changes that appear in infancy. The inheritance is autosomal recessive. Patients exhibit variable features including skeletal abnormalities, juvenile cataracts, and a higher-than-expected incidence of malignancy. This article describes aspects of the inheritance, the incidence of characteristic features, and the malignant potential of Rothmund-Thomson syndrome. Insight into its origin is provided through a review of the clinical signs and symptoms, the in vitro studies of endocrine function, and the reported DNA repair abnormalities.