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

Authors

  • T.-M. Huang,

    1. Department of Dermatology, National Cheng-Kung University Hospital and College of Medicine, National Cheng-Kung University, Tainan, Taiwan
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  • S.-C. Chao,

    1. Department of Dermatology, National Cheng-Kung University Hospital and College of Medicine, National Cheng-Kung University, Tainan, Taiwan
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  • J. Y.-Y. Lee

    1. Department of Dermatology, National Cheng-Kung University Hospital and College of Medicine, National Cheng-Kung University, Tainan, Taiwan
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  • Conflict of interest: none declared.

Dr J. Yu-Yun Lee, MD, Department of Dermatology, College of Medicine, National Cheng-Kung University, 138 Sheng-Li Road, Tainan, Taiwan.
E-mail: yylee@mail.ncku.edu.tw

Summary

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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