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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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Detalles Bibliográficos
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
Descripción
Sumario: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.