Background Trichoepithelioma is a benign cutaneous tumour that originates from hair follicles and occurs either as a sporadic non-familial or a multiple-familial type. Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in multiple familial trichoepithelioma (MFT).
Objectives To report a Chinese family of MFT and to explore the genetic mutation.
Methods A Chinese pedigree of typical MFT was subjected to mutation detection in CYLD. Direct sequencing of all PCR products of the whole coding regions of CYLD gene was performed to identify the mutation.
Results The c.1178-1179delCA (p.T393fs) mutation was found in CYLD gene in the affected members, but not in the healthy individuals in the family.
Conclusion Our study found a novel mutation in exon 10 of CYLD gene.