Furquim Isabel, Honjo Rachel, Bae Ricardo, Andrade Wagner, Santos Maria, Tannuri Uenis, Kim Chong
Unidade de Genética-Instituto da Criança-HCFMUSP.
J Pediatr Surg. 2009 Apr;44(4):E1-3. doi: 10.1016/j.jpedsurg.2008.12.016.
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.
普洛透斯综合征(PS)是一种极为罕见的先天性错构瘤综合征,最初由科恩和海登描述(1)。估计患病率低于每100万活产儿1例(2)。它是一种散发性疾病,可导致多种组织过度生长,尤其是骨骼、脂肪和其他结缔组织,呈斑片状或镶嵌状分布。经常观察到皮下及体内脂肪瘤,其可能长得非常大。然而,在体内脂肪瘤中,腹部脂肪瘤病很罕见(3),报告的病例不到15例。在此,我们报告首例描述为患有这种与累及网膜的脂肪瘤病相关的独特综合征的患者。