A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma

Multiple familial trichoepithelioma (MFT) is an autosomal dominant skin disorder that is characterized by childhood onset of numerous skin-colored papules and nodules on the central face that originate from hair follicles. Mutations in CYLD, the disease gene of familial cylindromatosis, have recently been detected in several families presented with MFT phenotype. CYLD has been shown to be a tumor suppressor gene. CYLD functions as a negative regulator of the transcription factor NF-kB, which protects against apoptosis, and inactivation or mutation of the CYLD gene contributes to oncogenesis. Here, we report a novel splicing mutation (IVS16+1G>T) in the CYLD gene in a Taiwanese family with MFT.