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Pseudoxanthoma Elasticum: Report of Two Cases
Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bru...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138145/ https://www.ncbi.nlm.nih.gov/pubmed/34054458 http://dx.doi.org/10.1159/000513468 |
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author | Esquivel-Pinto, Israel Antonio Vega-Memije, Maria Elisa Alvarado-Delgadillo, Araceli Campuzano-Garcia, Andres Eduardo Manríquez-Robles, Amairani |
author_facet | Esquivel-Pinto, Israel Antonio Vega-Memije, Maria Elisa Alvarado-Delgadillo, Araceli Campuzano-Garcia, Andres Eduardo Manríquez-Robles, Amairani |
author_sort | Esquivel-Pinto, Israel Antonio |
collection | PubMed |
description | Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch's membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches. |
format | Online Article Text |
id | pubmed-8138145 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | S. Karger AG |
record_format | MEDLINE/PubMed |
spelling | pubmed-81381452021-05-27 Pseudoxanthoma Elasticum: Report of Two Cases Esquivel-Pinto, Israel Antonio Vega-Memije, Maria Elisa Alvarado-Delgadillo, Araceli Campuzano-Garcia, Andres Eduardo Manríquez-Robles, Amairani Case Rep Dermatol Case and Review Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch's membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches. S. Karger AG 2021-04-19 /pmc/articles/PMC8138145/ /pubmed/34054458 http://dx.doi.org/10.1159/000513468 Text en Copyright © 2021 by S. Karger AG, Basel https://creativecommons.org/licenses/by-nc/4.0/This article is licensed under the Creative Commons Attribution-NonCommercial-4.0 International License (CC BY-NC) (http://www.karger.com/Services/OpenAccessLicense). Usage and distribution for commercial purposes requires written permission. |
spellingShingle | Case and Review Esquivel-Pinto, Israel Antonio Vega-Memije, Maria Elisa Alvarado-Delgadillo, Araceli Campuzano-Garcia, Andres Eduardo Manríquez-Robles, Amairani 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 and Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8138145/ https://www.ncbi.nlm.nih.gov/pubmed/34054458 http://dx.doi.org/10.1159/000513468 |
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