Case Report: Pseudoxanthoma elasticum

Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. At an initial stage, the skin usually exhibits distinctive lesions and subsequently extra-dermal manifestation...

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Detalles Bibliográficos
Autores principales: Lucas, Catarina, Aranha, João, da Rocha, Isabel, Sousa, Domingos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7372526/
https://www.ncbi.nlm.nih.gov/pubmed/32742638
http://dx.doi.org/10.12688/f1000research.21431.1
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author Lucas, Catarina
Aranha, João
da Rocha, Isabel
Sousa, Domingos
author_facet Lucas, Catarina
Aranha, João
da Rocha, Isabel
Sousa, Domingos
author_sort Lucas, Catarina
collection PubMed
description Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. At an initial stage, the skin usually exhibits distinctive lesions and subsequently extra-dermal manifestations. The diagnosis is based on clinical manifestations, histological analysis of the lesions and genetic analysis. This is a case report of a 12-year-old child complaining of painless, mildly itchy yellow papules in the cervical region with 1 year of evolution. PXE is currently an incurable disease and has a favourable prognosis when cardiovascular and retinal complications are prevented and monitored.
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spelling pubmed-73725262020-07-30 Case Report: Pseudoxanthoma elasticum Lucas, Catarina Aranha, João da Rocha, Isabel Sousa, Domingos F1000Res Case Report Pseudoxanthoma elasticum (PXE) is a rare inherited disorder, characterised by a progressive mineralization and fragmentation of elastic fibres of the skin, retina and cardiovascular system. At an initial stage, the skin usually exhibits distinctive lesions and subsequently extra-dermal manifestations. The diagnosis is based on clinical manifestations, histological analysis of the lesions and genetic analysis. This is a case report of a 12-year-old child complaining of painless, mildly itchy yellow papules in the cervical region with 1 year of evolution. PXE is currently an incurable disease and has a favourable prognosis when cardiovascular and retinal complications are prevented and monitored. F1000 Research Limited 2020-01-09 /pmc/articles/PMC7372526/ /pubmed/32742638 http://dx.doi.org/10.12688/f1000research.21431.1 Text en Copyright: © 2020 Lucas C et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Lucas, Catarina
Aranha, João
da Rocha, Isabel
Sousa, Domingos
Case Report: Pseudoxanthoma elasticum
title Case Report: Pseudoxanthoma elasticum
title_full Case Report: Pseudoxanthoma elasticum
title_fullStr Case Report: Pseudoxanthoma elasticum
title_full_unstemmed Case Report: Pseudoxanthoma elasticum
title_short Case Report: Pseudoxanthoma elasticum
title_sort case report: pseudoxanthoma elasticum
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7372526/
https://www.ncbi.nlm.nih.gov/pubmed/32742638
http://dx.doi.org/10.12688/f1000research.21431.1
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