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Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report

Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a ni...

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Autores principales: Gontijo, Gabriela Maria Abreu, Pinto, Clóvis Antonio Lopes, Rogatto, Silvia Regina, da Cunha, Isabela Werneck, Aguiar Junior, Samuel, Alves, Célia Antônia Xavier de Moraes
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Dermatologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900354/
https://www.ncbi.nlm.nih.gov/pubmed/24474112
http://dx.doi.org/10.1590/abd1806-4841.20132730
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author Gontijo, Gabriela Maria Abreu
Pinto, Clóvis Antonio Lopes
Rogatto, Silvia Regina
da Cunha, Isabela Werneck
Aguiar Junior, Samuel
Alves, Célia Antônia Xavier de Moraes
author_facet Gontijo, Gabriela Maria Abreu
Pinto, Clóvis Antonio Lopes
Rogatto, Silvia Regina
da Cunha, Isabela Werneck
Aguiar Junior, Samuel
Alves, Célia Antônia Xavier de Moraes
author_sort Gontijo, Gabriela Maria Abreu
collection PubMed
description Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and lentigines on the penis. Imaging tests showed extensive lipomatosis with invasion of paraspinal muscles, enlargement of the spinal canal and spinal cord compression; after surgical excision of the mass, the pathology was consistent with lipoma. Adipocyte culture karyotype demonstrated PTEN mutation. We present this case for its rarity and exuberance.
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spelling pubmed-39003542014-01-29 Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report Gontijo, Gabriela Maria Abreu Pinto, Clóvis Antonio Lopes Rogatto, Silvia Regina da Cunha, Isabela Werneck Aguiar Junior, Samuel Alves, Célia Antônia Xavier de Moraes An Bras Dermatol Case Report Bannayan-Riley-Ruvalcaba Syndrome is a rare condition caused by mutations in the PTEN gene. It displays association of multiple lipomas, macrocephaly, hemangiomas, hamartomatous intestinal polyposis, developmental delay and speckled pigmented maculae on the male genitalia. We report the case of a nine-month-old boy who had fast growing and progressive tumors for three months, macrocephaly and lentigines on the penis. Imaging tests showed extensive lipomatosis with invasion of paraspinal muscles, enlargement of the spinal canal and spinal cord compression; after surgical excision of the mass, the pathology was consistent with lipoma. Adipocyte culture karyotype demonstrated PTEN mutation. We present this case for its rarity and exuberance. Sociedade Brasileira de Dermatologia 2013 /pmc/articles/PMC3900354/ /pubmed/24474112 http://dx.doi.org/10.1590/abd1806-4841.20132730 Text en 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 Case Report
Gontijo, Gabriela Maria Abreu
Pinto, Clóvis Antonio Lopes
Rogatto, Silvia Regina
da Cunha, Isabela Werneck
Aguiar Junior, Samuel
Alves, Célia Antônia Xavier de Moraes
Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
title Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
title_full Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
title_fullStr Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
title_full_unstemmed Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
title_short Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report
title_sort bannayan-riley-ruvalcaba syndrome with deforming lipomatous hamartomas in infant - case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3900354/
https://www.ncbi.nlm.nih.gov/pubmed/24474112
http://dx.doi.org/10.1590/abd1806-4841.20132730
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