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.
Vennos
E M
EM
Department of Dermatology, Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
James
W D
WD
D000328:Adult; D001859:Bone Neoplasms / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities; D002386:Cataract / Q000473:pathology; D002675:Child, Preschool; D004260:DNA Repair; D004702:Endocrine Glands / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D012516:Osteosarcoma / Q000473:pathology; D011230:Precancerous Conditions / Q000473:pathology*; D011038:Rothmund-Thomson Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D012878:Skin Neoplasms / Q000473:pathology