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 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.
MD. Private practice - Belo Horizonte (MG), Brazil.
Gabriela Maria Abreu
GM
Gontijo
Hospital AC Camargo, São PauloSP, Brazil, MD. Pathologist, Hospital AC Camargo - São Paulo (SP), Brazil.
Clóvis Antonio Lopes
CA
Pinto
Centro Internacional de Pesquisa e Ensino, Hospital AC Camargo, São PauloSP, Brazil, Researcher at the International Center for Research (Centro Internacional de Pesquisa e Ensino, Hospital AC Camargo - CIPE) - São Paulo (SP), Brazil.
Silvia Regina
SR
Rogatto
Hospital AC Camargo, São PauloSP, Brazil, MD. Pathologist, Hospital AC Camargo - São Paulo (SP), Brazil.
Isabela Werneck da
IW
Cunha
Department of Pelvic Surgery, Hospital AC CamargoSão PauloSP, Brazil, MD, surgeon of the Department of Pelvic Surgery, Hospital AC Camargo - São Paulo (SP), Brazil.
Samuel
S
Aguiar
School of Medicine of Jundiaí, JundiaíSP, Brazil, Assistant Professor of Dermatology, School of Medicine of Jundiaí (FMJ) - Jundiaí (SP), Brazil.
Célia Antônia Xavier de Moraes
CA
Alves
D018450:Disease Progression; D006223:Hamartoma Syndrome, Multiple / Q000473:pathology*; D006801:Humans; D007223:Infant; D008067:Lipoma / Q000473:pathology*; D008297:Male; D009154:Mutation; D051059:PTEN Phosphohydrolase / Q000235:genetics; D012867:Skin / Q000473:pathology; D012878:Skin Neoplasms / Q000473:pathology*
D051059:PTEN Phosphohydrolase