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Radiology Research and Practice
Volume 2014, Article ID 947451, 7 pages
http://dx.doi.org/10.1155/2014/947451
Review Article

Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

1Department of Radiology, State University of Rio de Janeiro, 20551-030 Rio de Janeiro, RJ, Brazil
2Postgraduate Programme in Medical Sciences, State University of Rio de Janeiro, 20550-170 Rio de Janeiro, RJ, Brazil

Received 12 March 2014; Revised 19 May 2014; Accepted 27 May 2014; Published 9 June 2014

Academic Editor: Andreas H. Mahnken

Copyright © 2014 Letícia da Silva Lacerda et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.