POSTER NO: 479

CYDL mutation causes familial multiple trichoepithelioma in a Chinese family

¹Guangyong Zheng, ¹Wei Huang, ²Kaide Chen, ¹Landian Hu, ¹Guoping Zhao, ¹Xiangyin Kong
¹Shanghai Research Center of Biotechnology, Chinese Academy of Sciences, 500 Caobao Road, Shanghai 200233, China, ²The First Hospital of Jiande County, Zhejiang Province, People's Republic of China.

Familial multiple trichoepithelioma (FMT, MIM 601606) is an autosomal dominant skin disorder characterized by appearance of grouped nodules and papules on the face especially on the upper lip and nasolabial folds (1-2). Here, we found a single nucleotide deletion mutation in exon 10 of CYLD gene in a multiple trichoepithelioma (FMT, MIM 601606) family that causes a reading frame shift. Since CYLD is a susceptibility gene for familial cylindromatosis (3), our finding establishes a link between familial multiple trichoepithelioma and familial cylindromatosis.