Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations
| Autor: | Letícia da Silva Lacerda, Úrsula David Alves, José Fernando Cardona Zanier, Dequitier Carvalho Machado, Gustavo Bittencourt Camilo, Agnaldo José Lopes |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: | |
| Zdroj: | Radiology Research and Practice, Vol 2014 (2014) |
| Druh dokumentu: | article |
| ISSN: | 2090-1941 2090-195X |
| DOI: | 10.1155/2014/947451 |
| Popis: | Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung’s disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions. |
| Databáze: | Directory of Open Access Journals |
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