[Multiple familial trichoepithelioma: a new CYLD gene mutation]

Abstract

Background: Multiple familial trichoepithelioma (MFT) is an autosomal dominant disease characterized by the development of numerous skin-coloured papules on the central area of the face. It is associated with various CYLD gene mutations that are also responsible for familial cylindromatosis and Brooke-Spiegler syndrome.

Patients and methods: We report a novel mutation in the CYLD gene in a family with MFT and discuss new developments in therapeutic options.

Discussion: Recent studies indicate that CYLD is a tumour-suppressor gene.