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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...

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Autores principales: Esquivel-Pinto, Israel Antonio, Vega-Memije, Maria Elisa, Alvarado-Delgadillo, Araceli, Campuzano-Garcia, Andres Eduardo, Manríquez-Robles, Amairani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2021
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.
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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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