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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2013
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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. |
format | Online Article Text |
id | pubmed-3699942 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
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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