Proteus Syndrome: A Case Report and Updated Review of the Literature

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 and a right foot, where multiple surgeries were performed to achieve a desirable aesthetic outcome and ensure psychological comfort of the young patient. The insights provided by this case underscore the pivotal role of obtaining pleasing aesthetic outcomes in the surgical management of untreatable genetic disorders, with the aim of nurturing psychological contentment in affected children.