Proteus Syndrome: Case Report and Updated Literature Review
Maria K Klimeczek-Chrapusta,
Marek Kachnic,
Anna Chrapusta
Abstract:Proteus syndrome is an exceptionally uncommon genetic disorder that has been documented in only about 250 cases in the literature spanning the past four decades. It is characterized by a disproportionate, asymmetric overgrowth of all types of tissues, provoked by a somatic activating mutation in serine/threonine protein kinase 1 (AKT1). We report a case of a Proteus syndrome in a two-year-old female patient with the following clinical features: unilateral overgrowth of connective tissue in the right buttock an… Show more
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