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Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age

Authors Ribeiro MG, Zunta GL, Santos JS, Moraes AM, Lima CSP, Ortega MM

Received 25 October 2017

Accepted for publication 16 March 2018

Published 10 August 2018 Volume 2018:11 Pages 89—92


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer

Marina Guinda Ribeiro,1 Gabriella Lucato Zunta,1 Jéssica Silva Santos,1 Aparecida Machado Moraes,2 Carmen Silvia Passos Lima,2 Manoela Marques Ortega1

1Department of Post Graduate Program in Health Science, São Francisco University, Bragança Paulista, São Paulo, Brazil; 2Department of Internal Medicine, Faculty of Medical Sciences, University of Campinas, Campinas, São Paulo, Brazil

Abstract: Xeroderma pigmentosum is a rare autosomal recessive genetic disease characterized by extreme sensitivity due to solar radiation and deficiency in excision repair DNA. Those factors promote a set of skin abnormalities such as keratosis, hyperpigmentation, tumors in areas exposed to sunlight, and ocular and, eventually, neurological disorders. In the present review, we summarize the main clinical features related to a case of xeroderma pigmentosum in a man who was not diagnosed until he was 45 years old.

Keywords: xeroderma pigmentosum, DNA repair-deficiency disorders, ultraviolet rays

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