%0 Journal Article
%T Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations
%A Let¨ªcia da Silva Lacerda
%A ¨²rsula David Alves
%A Jos¨¦ Fernando Cardona Zanier
%A Dequitier Carvalho Machado
%A Gustavo Bittencourt Camilo
%A Agnaldo Jos¨¦ Lopes
%J Radiology Research and Practice
%D 2014
%I Hindawi Publishing Corporation
%R 10.1155/2014/947451
%X 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. 1. Introduction Longitudinal growth results from multifactorial and complex processes that take place in the broader context of different genetic traits and environmental influences [1, 2]. Overgrowth syndromes comprise a heterogeneous group of disorders that lead to excessive tissue proliferation, which is characterized by a phenotype of excessive somatic and visceral growth [1¨C3]. A myriad of syndromes are characterized by substantial localized or asymmetric tissue overgrowth, represented by Beckwith-Wiedemann syndrome, Sotos syndrome, Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Madelung¡¯s disease, neurofibromatosis type I, Weaver syndrome, Nevo syndrome, Simpson-Golabi-Behmel syndrome, Bannayan-Riley-Ruvalcaba syndrome, Perlman syndrome, Pallister-Killian syndrome, and many other conditions. The Beckwith-Wiedemann and Sotos syndromes are the most frequent [1¨C4]. Overgrowth syndromes can be localized or diffuse and often manifest at birth or in the postnatal period [4]. Though most growth syndrome have a genetic basis, others such as Madelung¡¯s disease have unknown etiology [4]. Genetic associations are already well established for some conditions including Weaver, Perlman, and Proteus syndromes [2]. The fact that Madelung¡¯s disease tends to occur in older males and is often associated with heavy alcohol consumption in 60¨C90% of cases suggests that it is an acquired abnormality or more susceptible to environmental modifiers [5, 6]. Importantly, most of these syndromes lead to increased risks of cognitive disorders and cancers [7]. The frequency of cancer is well documented in some syndromes such as Proteus (20%), Sotos (2¨C4%), and
%U http://www.hindawi.com/journals/rrp/2014/947451/