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Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues
Among ectopic mineralization disorders, pseudoxanthoma elasticum (PXE)—a rare genodermatosis associated with ocular and cardiovascular manifestations—is considered a paradigm disease. The symptoms of PXE are the result of mineralization and fragmentation of elastic fibers, the exact pathophysiology...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2012
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820553/ https://www.ncbi.nlm.nih.gov/pubmed/24278718 http://dx.doi.org/10.6064/2012/598262 |
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author | Hosen, Mohammad J. Lamoen, Anouck De Paepe, Anne Vanakker, Olivier M. |
author_facet | Hosen, Mohammad J. Lamoen, Anouck De Paepe, Anne Vanakker, Olivier M. |
author_sort | Hosen, Mohammad J. |
collection | PubMed |
description | Among ectopic mineralization disorders, pseudoxanthoma elasticum (PXE)—a rare genodermatosis associated with ocular and cardiovascular manifestations—is considered a paradigm disease. The symptoms of PXE are the result of mineralization and fragmentation of elastic fibers, the exact pathophysiology of which is incompletely understood. Though molecular analysis of the causal gene, ABCC6, has a high mutation uptake, a skin biopsy has until now been considered the golden standard to confirm the clinical diagnosis. Although the histological hallmarks of PXE are rather specific, several other diseases—particularly those affecting the skin—can present with clinical and/or histological characteristics identical to or highly resemblant of PXE. In this paper, we will summarize the histopathological features of PXE together with those of disorders that are most frequently considered in the differential diagnosis of PXE. |
format | Online Article Text |
id | pubmed-3820553 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2012 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-38205532013-11-25 Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues Hosen, Mohammad J. Lamoen, Anouck De Paepe, Anne Vanakker, Olivier M. Scientifica (Cairo) Review Article Among ectopic mineralization disorders, pseudoxanthoma elasticum (PXE)—a rare genodermatosis associated with ocular and cardiovascular manifestations—is considered a paradigm disease. The symptoms of PXE are the result of mineralization and fragmentation of elastic fibers, the exact pathophysiology of which is incompletely understood. Though molecular analysis of the causal gene, ABCC6, has a high mutation uptake, a skin biopsy has until now been considered the golden standard to confirm the clinical diagnosis. Although the histological hallmarks of PXE are rather specific, several other diseases—particularly those affecting the skin—can present with clinical and/or histological characteristics identical to or highly resemblant of PXE. In this paper, we will summarize the histopathological features of PXE together with those of disorders that are most frequently considered in the differential diagnosis of PXE. Hindawi Publishing Corporation 2012 2012-07-25 /pmc/articles/PMC3820553/ /pubmed/24278718 http://dx.doi.org/10.6064/2012/598262 Text en Copyright © 2012 Mohammad J. Hosen et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Review Article Hosen, Mohammad J. Lamoen, Anouck De Paepe, Anne Vanakker, Olivier M. Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues |
title | Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues |
title_full | Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues |
title_fullStr | Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues |
title_full_unstemmed | Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues |
title_short | Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues |
title_sort | histopathology of pseudoxanthoma elasticum and related disorders: histological hallmarks and diagnostic clues |
topic | Review Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3820553/ https://www.ncbi.nlm.nih.gov/pubmed/24278718 http://dx.doi.org/10.6064/2012/598262 |
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