Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations
| Autor: | Gustavo Bittencourt Camilo, Letícia da Silva Lacerda, José F.C. Zanier, Ursula David Alves, Agnaldo José Lopes, Dequitier Carvalho Machado |
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| Jazyk: | angličtina |
| Rok vydání: | 2014 |
| Předmět: |
Neurofibromatosis type I
lcsh:Medical physics. Medical radiology. Nuclear medicine Pathology medicine.medical_specialty Radiological and Ultrasound Technology biology business.industry lcsh:R895-920 Disease Review Article medicine.disease Phenotype Receptor tyrosine kinase Proteus syndrome Insulin receptor medicine biology.protein Radiology Nuclear Medicine and imaging Medical diagnosis business PI3K/AKT/mTOR pathway |
| Zdroj: | Radiology Research and Practice, Vol 2014 (2014) Radiology Research and Practice |
| ISSN: | 2090-1941 |
| 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: | OpenAIRE |
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