Squamous cell carcinoma of the tongue in a patient with Rothmund-Thomson syndrome

Abstract

Rothmund-Thomson syndrome is a rare autosomal recessive genodermatosis characterised by poikilodermatous skin changes that appear in childhood. Patients exhibit variable additional features including juvenile cataracts, skeletal 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 Rothmund-Thomson syndrome patient and review the natural history of this rare disease, given that the patient was diagnosed with Rothmund-Thomson syndrome at the age of 8 years and was first reported in 1975.