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World J Dermatol. Feb 2, 2015; 4(1): 44-49
Published online Feb 2, 2015. doi: 10.5314/wjd.v4.i1.44
Knowledge explosion for monogenic skin diseases
Nikoletta Nagy, Katalin Farkas, Lajos Kemény, Márta Széll
Nikoletta Nagy, Katalin Farkas, Lajos Kemény, Márta Széll, Dermatological Research Group of the Hungarian Academy of Sciences, University of Szeged, H-6720 Szeged, Hungary
Nikoletta Nagy, Lajos Kemény, Department of Dermatology and Allergology, University of Szeged, H-6720 Szeged, Hungary
Nikoletta Nagy, Márta Széll, Department of Medical Genetics, University of Szeged, H-6720 Szeged, Hungary
Author contributions: All authors contributed to this work.
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.
Conflict-of-interest: The authors state no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: Dr. Nikoletta Nagy, Department of Medical Genetics, University of Szeged, 4 Somogyi Béla utca, H-6720 Szeged, Hungary. nikoletta.nagy@gmail.com
Telephone: +36-62-545134 Fax: +36-62-545258
Received: August 14, 2014
Peer-review started: August 15, 2014
First decision: October 17, 2014
Revised: November 14, 2014
Accepted: November 27, 2014
Article in press: December 31, 2014
Published online: February 2, 2015
Processing time: 158 Days and 19.7 Hours
Abstract

During the past few decades, the investigative tech-nologies 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 genetic variations 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.

Keywords: Familial trichoepitheliomatosis; Familial cylindromatosis; Brooke-Spiegler syndrome; Monogenic skin diseases

Core tip: Although dermatology is a morphology-orientated specialty, genetic investigation can help understand the events taking place in the skin of the affected patients. Genetic investigation of Brooke-Spiegler syndrome, familial cylindromatosis and multiple familial trichoepithelioma type 1 further supported the clinical hypothesis that these monogenic skin diseases are not different entities, but rather clinical variants of a disease spectrum caused by mutations in the cylindromatosis (CYLD) gene. In addition to understanding the underlying mechanisms of these allelic variants, genetic investigation can also accelerate the development of novel therapeutic modalities, such as therapy using tropomyosin-receptor-kinase specific lestaurtinib for patients with germline CYLD mutations.