Recurrent CYLD Nonsense Mutation Associated With a Severe, Disfiguring Phenotype in an African American Family With Multiple Familial Trichoepithelioma

Abstract

To the Editor:Recently, Kazakov et al1 performed a clinicopathologic and genotypic analysis on a series of 16 patients suffering from multiple (familial) trichoepitheliomas (MFT: MIM 601606) and found mutations in the CYLD gene in 46%. Based on the frequent presence of CYLD mutations in MFT, it, alo