title: Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations.
abstract: 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.
authors.affiliation: Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil.
authors.forename: Letícia da Silva
authors.initials: Lda S
authors.lastname: Lacerda
authors.affiliation: Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil.
authors.forename: Ursula David
authors.initials: UD
authors.lastname: Alves
authors.affiliation: Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil.
authors.forename: José Fernando Cardona
authors.initials: JF
authors.lastname: Zanier
authors.affiliation: Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil ; Postgraduate Programme in Medical Sciences, State University of Rio de Janeiro, 20550-170 Rio de Janeiro, RJ, Brazil.
authors.forename: Dequitier Carvalho
authors.initials: DC
authors.lastname: Machado
authors.affiliation: Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil ; Postgraduate Programme in Medical Sciences, State University of Rio de Janeiro, 20550-170 Rio de Janeiro, RJ, Brazil.
authors.forename: Gustavo Bittencourt
authors.initials: GB
authors.lastname: Camilo
authors.affiliation: Postgraduate Programme in Medical Sciences, State University of Rio de Janeiro, 20550-170 Rio de Janeiro, RJ, Brazil.
authors.forename: Agnaldo José
authors.initials: AJ
authors.lastname: Lopes