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Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()

Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating t...

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Autores principales: Bueno, Ana Laura Andrade, de Souza, Maria Emilia Vieira, Graziadio, Carla, Kiszewski, Ana Elisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563002/
https://www.ncbi.nlm.nih.gov/pubmed/32778355
http://dx.doi.org/10.1016/j.abd.2020.03.011
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author Bueno, Ana Laura Andrade
de Souza, Maria Emilia Vieira
Graziadio, Carla
Kiszewski, Ana Elisa
author_facet Bueno, Ana Laura Andrade
de Souza, Maria Emilia Vieira
Graziadio, Carla
Kiszewski, Ana Elisa
author_sort Bueno, Ana Laura Andrade
collection PubMed
description Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome.
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spelling pubmed-75630022020-10-20 Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()() Bueno, Ana Laura Andrade de Souza, Maria Emilia Vieira Graziadio, Carla Kiszewski, Ana Elisa An Bras Dermatol Case Report Pilomatricomas are benign tumors originating from the capillary matrix, which may present as solitary lesions or, less commonly, multiple. Myotonic dystrophy and familial adenomatous polyposis are the most frequently associated disorders with multiple pilomatricomas. There are few reports relating these tumors to other genetic syndromes. Rubinstein-Taybi syndrome is a rare autosomal dominant disorder characterized by intellectual disability and typical dysmorphic characteristics. There are five case reports relating to multiple pilomatricoma to Rubinstein-Taybi syndrome, an association that needs to be clarified. For this reason, we report the first case of multiple pilomatricoma in monozygotic twins with typical Rubinstein-Taybi syndrome. Sociedade Brasileira de Dermatologia 2020 2020-07-15 /pmc/articles/PMC7563002/ /pubmed/32778355 http://dx.doi.org/10.1016/j.abd.2020.03.011 Text en © 2020 Sociedade Brasileira de Dermatologia. Published by Elsevier España, S.L.U. http://creativecommons.org/licenses/by/4.0/ This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Bueno, Ana Laura Andrade
de Souza, Maria Emilia Vieira
Graziadio, Carla
Kiszewski, Ana Elisa
Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
title Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
title_full Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
title_fullStr Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
title_full_unstemmed Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
title_short Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome()()
title_sort multiple pilomatricomas in twins with rubinstein-taybi syndrome()()
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7563002/
https://www.ncbi.nlm.nih.gov/pubmed/32778355
http://dx.doi.org/10.1016/j.abd.2020.03.011
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