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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Dove Medical Press
2018
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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. |
format | Online Article Text |
id | pubmed-6089094 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Dove Medical Press |
record_format | MEDLINE/PubMed |
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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