Nagy N, Farkas K, Kemény L, Széll M. Knowledge explosion for monogenic skin diseases. World J Dermatol 2015; 4(1): 44-49 [DOI: 10.5314/wjd.v4.i1.44]
Corresponding Author of This Article
Dr. Nikoletta Nagy, Department of Medical Genetics, University of Szeged, 4 Somogyi Béla utca, H-6720 Szeged, Hungary. nikoletta.nagy@gmail.com
Research Domain of This Article
Dermatology
Article-Type of This Article
Minireviews
Open-Access Policy of This Article
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/
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
Core Tip
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.
