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Do you know this syndrome?

The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink...

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Detalles Bibliográficos
Autor principal: Gontijo, Gabriela Maria Abreu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3750905/
https://www.ncbi.nlm.nih.gov/pubmed/23739690
http://dx.doi.org/10.1590/S0365-05962013000200027
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author Gontijo, Gabriela Maria Abreu
author_facet Gontijo, Gabriela Maria Abreu
author_sort Gontijo, Gabriela Maria Abreu
collection PubMed
description The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications.
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spelling pubmed-37509052013-09-18 Do you know this syndrome? Gontijo, Gabriela Maria Abreu An Bras Dermatol Syndrome in Question The Bourneville-Pringle syndrome is an autosomal dominant neurocutaneous disorder characterized by the development of multiple hamartomas in various systems, especially brain, skin, retina, kidney, heart and lung. The case of a patient with brownish plaques on the forehead and temporal region, pink malar and chin papules, and hypopigmented macules on the back and trunk is described. The diagnosis of the Bourneville-Pringle syndrome is based on clinical criteria. Presence of two major criteria, such as facial angiofibromas, forehead fibrous plaques, three or more hypomelanotic macules establish the definitive diagnosis. The diagnosis should be made as early as possible in order to assess and treat the associated complications. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3750905/ /pubmed/23739690 http://dx.doi.org/10.1590/S0365-05962013000200027 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 License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Syndrome in Question
Gontijo, Gabriela Maria Abreu
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/PMC3750905/
https://www.ncbi.nlm.nih.gov/pubmed/23739690
http://dx.doi.org/10.1590/S0365-05962013000200027
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