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-kappaB, 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.