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

• Autor(a) principal: Gontijo,Gabriela Maria Abreu
• Data de Publicação: 2013
• Outros Autores: Pinto,Clóvis Antonio Lopes, Rogatto,Silvia Regina, Cunha,Isabela Werneck da, Aguiar Junior,Samuel, Alves,Célia Antônia Xavier de Moraes
• Tipo de documento: Relatório
• Idioma: eng
• Título da fonte: Anais brasileiros de dermatologia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0365-05962013000600982
• topic: Hamartoma; Hamartoma syndrome, multiple; Lipoma

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.