Article
Different phenotypes in Muir-Torre syndrome: clinical and biomolecular characterization in two Italian families.
The British journal of dermatology - 1 Jun 2005
Ponti G, Ponz de Leon M, Losi L, Di Gregorio C, Benatti P, Pedroni M, Scarselli A, Riegler G, Lembo L, Pellacani G, Seidenari S, Rossi G, Roncucci L
Abstract excerpt
The Muir-Torre syndrome (MTS) is an autosomal dominant genodermatosis characterized by the presence of sebaceous gland tumours, with or without keratoacanthomas, associated with visceral malignancies. We describe and characterize two families in which the ample phenotypic variability of MTS was evident. After clinical evaluation, the skin and visceral tumours of one member of a family with 'classic' MTS and one...
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