Abstract
Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by the development of numerous skin-coloured papules on the central area of the face. It is associated with various CYLD gene mutations that are also responsible for familial cylindromatosis and Brooke-Spiegler syndrome. We report a novel mutation in the CYLD gene in a family with MFT and discuss new developments in therapeutic options. Recent studies indicate that CYLD is a tumour-suppressor gene.
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