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

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 ocul...

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Autores principales: Ribeiro, Marina Guinda, Zunta, Gabriella Lucato, Santos, Jéssica Silva, Moraes, Aparecida Machado, Lima, Carmen Silvia Passos, Ortega, Manoela Marques
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove Medical Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089094/
https://www.ncbi.nlm.nih.gov/pubmed/30127633
http://dx.doi.org/10.2147/TACG.S155083
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author Ribeiro, Marina Guinda
Zunta, Gabriella Lucato
Santos, Jéssica Silva
Moraes, Aparecida Machado
Lima, Carmen Silvia Passos
Ortega, Manoela Marques
author_facet Ribeiro, Marina Guinda
Zunta, Gabriella Lucato
Santos, Jéssica Silva
Moraes, Aparecida Machado
Lima, Carmen Silvia Passos
Ortega, Manoela Marques
author_sort Ribeiro, Marina Guinda
collection PubMed
description 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.
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spelling pubmed-60890942018-08-20 Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age Ribeiro, Marina Guinda Zunta, Gabriella Lucato Santos, Jéssica Silva Moraes, Aparecida Machado Lima, Carmen Silvia Passos Ortega, Manoela Marques Appl Clin Genet Case Report 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. Dove Medical Press 2018-08-10 /pmc/articles/PMC6089094/ /pubmed/30127633 http://dx.doi.org/10.2147/TACG.S155083 Text en © 2018 Ribeiro et al. This work is published and licensed by Dove Medical Press Limited The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed.
spellingShingle Case Report
Ribeiro, Marina Guinda
Zunta, Gabriella Lucato
Santos, Jéssica Silva
Moraes, Aparecida Machado
Lima, Carmen Silvia Passos
Ortega, Manoela Marques
Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
title Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
title_full Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
title_fullStr Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
title_full_unstemmed Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
title_short Clinical features related to xeroderma pigmentosum in a Brazilian patient diagnosed at advanced age
title_sort clinical features related to xeroderma pigmentosum in a brazilian patient diagnosed at advanced age
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6089094/
https://www.ncbi.nlm.nih.gov/pubmed/30127633
http://dx.doi.org/10.2147/TACG.S155083
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