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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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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Sociedade Brasileira de Dermatologia
2013
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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. |
format | Online Article Text |
id | pubmed-3750905 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
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?
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title_full | Do you know this syndrome?
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title_fullStr | Do you know this syndrome?
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title_full_unstemmed | Do you know this syndrome?
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title_short | Do you know this syndrome?
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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 |
work_keys_str_mv | AT gontijogabrielamariaabreu doyouknowthissyndrome |