Hypotrichosis with Juvenile Macular Dystrophy

Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal express...

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Autores principales: Almeida, Filipa Tavares, Carneiro-Freitas, Rui, Caldas, Regina, Vieira, Ana Paula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290288/
https://www.ncbi.nlm.nih.gov/pubmed/30607044
http://dx.doi.org/10.4103/ijt.ijt_60_18
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author Almeida, Filipa Tavares
Carneiro-Freitas, Rui
Caldas, Regina
Vieira, Ana Paula
author_facet Almeida, Filipa Tavares
Carneiro-Freitas, Rui
Caldas, Regina
Vieira, Ana Paula
author_sort Almeida, Filipa Tavares
collection PubMed
description Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.
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spelling pubmed-62902882019-01-03 Hypotrichosis with Juvenile Macular Dystrophy Almeida, Filipa Tavares Carneiro-Freitas, Rui Caldas, Regina Vieira, Ana Paula Int J Trichology Case Report Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC6290288/ /pubmed/30607044 http://dx.doi.org/10.4103/ijt.ijt_60_18 Text en Copyright: © 2018 International Journal of Trichology http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Case Report
Almeida, Filipa Tavares
Carneiro-Freitas, Rui
Caldas, Regina
Vieira, Ana Paula
Hypotrichosis with Juvenile Macular Dystrophy
title Hypotrichosis with Juvenile Macular Dystrophy
title_full Hypotrichosis with Juvenile Macular Dystrophy
title_fullStr Hypotrichosis with Juvenile Macular Dystrophy
title_full_unstemmed Hypotrichosis with Juvenile Macular Dystrophy
title_short Hypotrichosis with Juvenile Macular Dystrophy
title_sort hypotrichosis with juvenile macular dystrophy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6290288/
https://www.ncbi.nlm.nih.gov/pubmed/30607044
http://dx.doi.org/10.4103/ijt.ijt_60_18
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AT caldasregina hypotrichosiswithjuvenilemaculardystrophy
AT vieiraanapaula hypotrichosiswithjuvenilemaculardystrophy

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