Description
Cowden syndrome is an autosomal dominant condition with characteristic defined mucocutaneous lesions, usually in addition to malignant tumours of the breast and thyroid. Other associations include benign and malignant tumours affecting all three embryological layers, principally hamartomas of the gastrointestinal tract and breast alongside craniofacial abnormalities. The germline mutation has been localised to chromosome 10 by recombinant mutational analysis and familial linkage patterns (reviewed in Eng 1998). We report a putative case of Cowden syndrome in a man with no other apparent significant family history but with clinical criteria that fit the requirements of the International Cowden Syndrome Consortium.
