Rothmund-Thomson Syndrome: An Oculocutaneous Disorder

Abstract

ALMOST 100 years ago, Rothmund 29 described the first of a group of children with a hereditary disorder whose principal clinical findings include atrophy, pigmentation, telangiectasia, and a peculiar marmorization of the skin in association with juvenile cataracts, abnormalities of the skeleton, loss of hair, defects of the nails and teeth, and disturbances in sexual development. Since then, a number of cases have been described in the general medical, ophthalmologic, and dermatologic literature, but none in pediatric journals. This report presents two typical cases of the Rothmund-Thomson Syndrome in brothers and calls attention to the salient features of the disorder. Report of Cases Case1.—This white boy was born after a 33-week pregnancy and weighed 1,750 gm (3 lb 14 oz). The mother had been well during the pregnancy. At birth, there was some delay in initiating respiration, and oxygen was administered for several days. During the first months of