Rothmund-Thomson syndrome: review of the world literature.

Abstract

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 extensive review of the world literature clarifies aspects of the inheritance, incidence of characteristic features, and malignant potential of this disease. Insight into its origin is provided through a review of the clinical and in vitro studies of endocrine function and possible DNA repair abnormalities.