Proteus syndrome: report of a case with recurrent abdominal lipomatosis.
Proteus syndrome (PS) is an extremely rare congenital hamartomatous syndrome that was first delineated by Cohen and Hayden (1). The estimated prevalence is less than 1 per 1,000,000 live births (2). It is a sporadic disorder that causes overgrowth of multiple tissues, especially bone, fat, and other connective tissues in a patchy or mosaic pattern. Subcutaneous as well as internal lipomas that may grow to an enormous size are frequently observed. Nevertheless, among the internal lipomas, abdominal lipomatosis is rare (3), with less than 15 cases reported. Herein, we report the first patient described with this distinctive syndrome associated with lipomatosis involving the epiploon.
Unidade de Genética-Instituto da Criança-HCFMUSP. belmosca@hotmail.com
Isabel
I
Furquim
Rachel
R
Honjo
Ricardo
R
Bae
Wagner
W
Andrade
Maria
M
Santos
Uenis
U
Tannuri
Chong
C
Kim
D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007813:Laparotomy / Q000379:methods; D008068:Lipomatosis / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D009852:Omentum / Q000473:pathology; D010532:Peritoneal Diseases / Q000150:complications / Q000175:diagnosis* / Q000601:surgery; D016715:Proteus Syndrome / Q000150:complications / Q000175:diagnosis*; D035583:Rare Diseases; D012008:Recurrence; D012086:Reoperation; D018570:Risk Assessment; D016896:Treatment Outcome