Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by numerous skin-coloured papules on the central face. Mutations in the CYLD gene, which is also the gene responsible for familial cylindromatosis, have been reported recently. Recent studies indicate that CYLD is a tumour-suppressor gene. The CYLD protein is a negative regulator of the activation of transcription factor nuclear factor-κB, and loss of CYLD contributes to oncogenesis. We report a novel splicing mutation (IVS12 + 1 G→A) in the CYLD gene in a Taiwanese pedigree with MFT, and discuss new developments in treatment options.
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