Knowledge explosion for monogenic skin diseases

作     者：Nikoletta Nagy Katalin Farkas Lajos Kemény Márta Széll 

作者机构：Dermatological Research Group of the Hungarian Academy of SciencesUniversity of Szeged Department of Dermatology and Allergology University of Szeged Department of Medical Genetics University of Szeged Dermatological Research Group of the Hungarian Academy of Sciences University of Szeged 

出 版 物：《World Journal of Dermatology》 (世界皮肤病学杂志)

年 卷 期：2015年第4卷第1期

页      面：44-49页

学科分类：10[医学] 

基　　金：Supported by The European Union and the State of Hungary co-financed by the European Social Fund in the framework of TáMOP-4.2.4.A/ 2-11/1-2012-0001 "National Excellence Program" by the Hungarian Scientific Research Fund (OTKA) PD104782 grant (to Nikoletta Nagy) by the TáMOP-4.2.2.A-11-1-KONV-2012-0035 grant 

主　　题：Familial trichoepitheliomatosis Familial cylindromatosis Brooke-Spiegler syndrome Monogenic skin diseases 

摘      要：During the past few decades, the investigative technologies of molecular biology- especially sequencing-underwent huge advances, leading to the sequencing of the entire human genome, as well as the identification of several candidate genes and the causative geneticvariations that are responsible for monogenic skin diseases. These advances provided a solid basis for subsequent studies elucidating mechanisms of monogenic skin diseases and improving our understanding of common skin diseases. Furthermore, these discoveries also contributed to the development of novel therapeutic modalities for monogenic skin diseases. In this review, we have used the disease spectrum caused by mutations in the CYLD gene- Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma type 1- as a model for demonstrating the knowledge explosion for this group of diseases.