Proteus Syndrome: Report of Intra-Abdominal Lipomatosis
| Autor: | Basak Erginel, Melih Akin, Abdullah Yildiz, Cetin Karadag, Nihat Sever, Canan Tanik, Mehmet Erturk, Ali Ihsan Dokucu |
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| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: | |
| Zdroj: | European Journal of Pediatric Surgery Reports, Vol 01, Iss 01, Pp 038-040 (2013) |
| Druh dokumentu: | article |
| ISSN: | 2194-7619 2194-7627 |
| DOI: | 10.1055/s-0033-1343078 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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