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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Dermatologia
2013
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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. |
format | Online Article Text |
id | pubmed-3900354 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Sociedade Brasileira de Dermatologia |
record_format | MEDLINE/PubMed |
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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