Archives of Plastic Surgery

Korean Society of Plastic and Reconstructive Surgeons (대한성형외과학회)
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Proteus Syndrome: Case Report and Updated Literature Review

  • Maria K Klimeczek-Chrapusta (Malopolska Burn and Plastic Surgery Center, Ludwik Rydygier Memorial Hospital in Krakow) ;
  • Marek Kachnic (Student Scientific Group of Pediatric Surgery, Department of Pediatric Surgery, Jagiellonian University Medical College, Faculty of Medicine) ;
  • Anna Chrapusta (Malopolska Burn and Plastic Surgery Center, Ludwik Rydygier Memorial Hospital in Krakow)
  • Received : 2023.10.18
  • Accepted : 2024.04.03
  • Published : 2024.07.15
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Abstract

Proteus syndrome (PS) is an exceptionally uncommon genetic disorder that has been documented in only approximately 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. We report a case of PS in a two-year-old female patient with the following clinical features: unilateral overgrowth of connective tissue in the right buttock and 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.

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References

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