Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosi s characterized by a poikilodermatous rash starting in infancy, small statu re, skeletal abnormalities, juvenile cataracts, and predisposition to speci fic cancers. We have identified a contemporary cohort of 41 patients to bet ter define the clinical profile, diagnostic criteria, and management of pat ients with RTS, Patients with the diagnosis of RTS were ascertained by refe rrals from dermatology, ophthalmology, genetics, and oncology or from direc t contact with the patient's family, Medical information was obtained from interviews with physicians, patients, and their parents and a review of med ical records. The age range at ascertainment was 9 months to 42 years (28 m ales and 13 females; M:F, 2:1). All subjects displayed a characteristic ras h, Thirteen subjects had osteosarcoma (OS) (32%), eight had radial defects (20%), seven had gastrointestinal findings (17%), two had cataracts (6%), a nd one had skin cancer (2%). Twenty-two of 28 patients without OS were less than 15 years old and thus remain at significant risk for this tumor. This case-series study reveals a clinical profile of RTS that includes a higher prevalence of OS and fewer cataracts, compared with historical reports. Th ese differences may reflect either allelic or genetic heterogeneity. This s tudy documents the frequency of clinical anomalies in a temporary cohort of RTS patients revises guidelines for diagnosis and management of RTS. (C) 2 001 Wiley-Liss, Inc.