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变形综合征:腹腔内脂肪瘤病报告

Proteus syndrome: report of intra-abdominal lipomatosis.

作者信息

Erginel Basak, Akin Melih, Yildiz Abdullah, Karadag Cetin, Sever Nihat, Tanik Canan, Erturk Mehmet, Dokucu Ali Ihsan

机构信息

Department of Pediatric Surgery, Sisli Etfal Education and Research Hospital, Istanbul-Sisli, Istanbul, Turkey.

Department of Pathology, Sisli Etfal Education and Research Hospital, Istanbul-Sisli, Istanbul, Turkey.

出版信息

European J Pediatr Surg Rep. 2013 Jun;1(1):38-40. doi: 10.1055/s-0033-1343078. Epub 2013 Apr 20.

Abstract

Proteus syndrome (PS) is an extremely rare sporadic disorder that manifests as an asymmetric, disproportionate overgrowth of any connective tissues, such as bone, fat, or epidermal nevi, in a mosaic or patchy pattern. This hamartoneoplastic syndrome was first described by Cohen and Hayden. Its prevalence is approximately 1 per 1,000,000 live births, and intra-abdominal expansion has been reported in no more than 20 cases in the literature. The phenotypes of the patients differ because of the variation in the pattern of the overgrowths, making diagnosis difficult. Extremely large subcutaneous lipomas and internal lipomas, which occur rarely, are one of the presentation phenotypes. Here, we present the second patient in the literature with PS involving the epiploon.

摘要

变形综合征(PS)是一种极为罕见的散发性疾病,表现为任何结缔组织(如骨骼、脂肪或表皮痣)以镶嵌或斑片状模式出现不对称、不成比例的过度生长。这种错构瘤性肿瘤综合征最早由科恩和海登描述。其患病率约为每100万活产儿中有1例,文献报道腹腔内扩张的病例不超过20例。由于过度生长模式的差异,患者的表型各不相同,这使得诊断变得困难。极其罕见的巨大皮下脂肪瘤和内部脂肪瘤是其表现型之一。在此,我们报告了文献中第二例累及网膜的变形综合征患者。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/34cc/4335946/38ab16a49d24/10-1055-s-0033-1343078-i120025cr-1.jpg

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