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Do you know this syndrome?()

Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unknown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduction. There are few reports in the literature with this association. Studies show that t...

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Autores principales: Frainer, Renata Hubner, de Abreu, Luciana Boff, Pinto, Giselle Martins, de Carvalho, André Vicente Esteves, Meneghello, Luana Pizarro
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699942/
https://www.ncbi.nlm.nih.gov/pubmed/23539021
http://dx.doi.org/10.1590/S0365-05962013000100023
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author Frainer, Renata Hubner
de Abreu, Luciana Boff
Pinto, Giselle Martins
de Carvalho, André Vicente Esteves
Meneghello, Luana Pizarro
author_facet Frainer, Renata Hubner
de Abreu, Luciana Boff
Pinto, Giselle Martins
de Carvalho, André Vicente Esteves
Meneghello, Luana Pizarro
author_sort Frainer, Renata Hubner
collection PubMed
description Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unknown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduction. There are few reports in the literature with this association. Studies show that the defective gene is on the chromosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect.
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spelling pubmed-36999422013-07-09 Do you know this syndrome?() Frainer, Renata Hubner de Abreu, Luciana Boff Pinto, Giselle Martins de Carvalho, André Vicente Esteves Meneghello, Luana Pizarro An Bras Dermatol Syndrome In Question Congenital hypotrichosis and Stargardt macular dystrophy are rare autosomal recessive disorder of unknown etiology respectively characterized by hair loss, macular degeneration and severe progressive vision reduction. There are few reports in the literature with this association. Studies show that the defective gene is on the chromosome I6q22.1 and involve cadherin molecule in the pathogenesis. Early recognition of these disorders often starts with hair changes and should alert the dermatologist for an eye examination thereby avoiding more severe ocular defect. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3699942/ /pubmed/23539021 http://dx.doi.org/10.1590/S0365-05962013000100023 Text en ©2013 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 Syndrome In Question
Frainer, Renata Hubner
de Abreu, Luciana Boff
Pinto, Giselle Martins
de Carvalho, André Vicente Esteves
Meneghello, Luana Pizarro
Do you know this syndrome?()
title Do you know this syndrome?()
title_full Do you know this syndrome?()
title_fullStr Do you know this syndrome?()
title_full_unstemmed Do you know this syndrome?()
title_short Do you know this syndrome?()
title_sort do you know this syndrome?()
topic Syndrome In Question
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3699942/
https://www.ncbi.nlm.nih.gov/pubmed/23539021
http://dx.doi.org/10.1590/S0365-05962013000100023
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