Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

Costello syndrome was first described in 1971. Besides papillomata, which w ere part of the initial description, patients tends to develop benign tumou rs of ectodermal origin. Aetiology is yet unknown but it is supposed to be the result of a sporadic dominant mutation. We report six patients with typ ical clinical findings and emphasise the importance of cardiac manifestatio ns and the tendency to develop tumours. One patient developed an embryonal rhabdomyosarcoma, the occurrence of which has been reported twice before in patients with Costello syndrome. Conclusion There might be a causal link between the development of rare tum ours and this genetic disorder which may provide a new clue concerning the identification of the gene involved in Costello syndrome.