Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis char
acterised by poikilodermatous skin changes that appear in childhood. Patien
ts exhibit variable additional features including juvenile cataracts, skele
tal abnormalities and a higher than expected incidence of malignancies. We
report a case of squamous cell carcinoma of the tongue in a 37-year-old Rot
hmund-Thomson syndrome patient and review the natural history of this rare
disease, given that the patient was diagnosed with Rothmund-Thomson syndrom
e at the age of 8 years and was first reported in 1975.