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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...

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Autores principales: Marques, Gabriela Franco, Nakandakari, Sadamitsu, Coelho, Ana Paula Cota Pinto, Nigro, Maria Helena Mazzi Freire, Sabage, Josmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2014
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.
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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*
title_full Pseudoxanthoma elasticum: report of two cases*
title_fullStr Pseudoxanthoma elasticum: report of two cases*
title_full_unstemmed Pseudoxanthoma elasticum: report of two cases*
title_short Pseudoxanthoma elasticum: report of two cases*
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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