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Pseudoxanthoma elasticum: report of two cases*
Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2014
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155964/ https://www.ncbi.nlm.nih.gov/pubmed/25184925 http://dx.doi.org/10.1590/abd1806-4841.20143144 |
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author | Marques, Gabriela Franco Nakandakari, Sadamitsu Coelho, Ana Paula Cota Pinto Nigro, Maria Helena Mazzi Freire Sabage, Josmar |
author_facet | Marques, Gabriela Franco Nakandakari, Sadamitsu Coelho, Ana Paula Cota Pinto Nigro, Maria Helena Mazzi Freire Sabage, Josmar |
author_sort | Marques, Gabriela Franco |
collection | PubMed |
description | Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications. |
format | Online Article Text |
id | pubmed-4155964 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2014 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
spelling | pubmed-41559642014-09-09 Pseudoxanthoma elasticum: report of two cases* Marques, Gabriela Franco Nakandakari, Sadamitsu Coelho, Ana Paula Cota Pinto Nigro, Maria Helena Mazzi Freire Sabage, Josmar An Bras Dermatol Case Report Pseudoxanthoma elasticum is a rare inherited multisystem disorder that is characterized by a pathological mineralization of the elastic connective tissue, which involves predominantly the skin, eyes and cardiovascular system. Its cause lies on mutations in the ABCC6 gene, which lead to reduction or absence of the transmembrane transport ADP dependent protein (MRP6), causing an accumulation of extracellular material and subsequent deposition of calcium and other minerals in the elastic tissue. The authors report two cases of pseudoxanthoma elasticum, emphasizing its major clinical features and the importance of early diagnosis of the disorder, aiming for adequate therapeutic management of associated complications. Sociedade Brasileira de Dermatologia 2014 /pmc/articles/PMC4155964/ /pubmed/25184925 http://dx.doi.org/10.1590/abd1806-4841.20143144 Text en ©2014 by Anais Brasileiros de Dermatologia http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Marques, Gabriela Franco Nakandakari, Sadamitsu Coelho, Ana Paula Cota Pinto Nigro, Maria Helena Mazzi Freire Sabage, Josmar Pseudoxanthoma elasticum: report of two cases* |
title | Pseudoxanthoma elasticum: report of two cases*
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title_full | Pseudoxanthoma elasticum: report of two cases*
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title_fullStr | Pseudoxanthoma elasticum: report of two cases*
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title_full_unstemmed | Pseudoxanthoma elasticum: report of two cases*
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title_short | Pseudoxanthoma elasticum: report of two cases*
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title_sort | pseudoxanthoma elasticum: report of two cases* |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4155964/ https://www.ncbi.nlm.nih.gov/pubmed/25184925 http://dx.doi.org/10.1590/abd1806-4841.20143144 |
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