Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant - Case report / Sindrome de Bannayan-Riley-Ruvalcaba com hamartomas lipomatosos deformantes em lactente - Relato de caso
Gontijo, Gabriela Maria Abreu; Pinto, Clovis Antonio Lopes; Rogatto, Silvia Regina; Cunha, Isabela Werneck da; Aguiar Junior, Samuel; Alves, Celia Antonia Xavier de Moraes.
An. bras. dermatol
; 88(6): 982-985, Nov-Dec/2013. graf
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| LILACS | ID: lil-698997
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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