Differential diagnoses of overgrowth syndromes: the most important clinical and radiological disease manifestations.

[proteus syndrome]

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 )/PI 3 K /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 .

Diseases
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Diseases presenting "radiological methods are important contributors to the diagnosis of many of these syndromes" symptom

proteus syndrome

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