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CC BY 4.0 · Arch Plast Surg 2024; 51(04): 423-431
DOI: 10.1055/a-2300-7002
Extremity/Lymphedema
Case Report

Proteus Syndrome: Case Report and Updated Literature Review

Maria K Klimeczek-Chrapusta 
1   Malopolska Burn and Plastic Surgery Center, Ludwik Rydygier Memorial Hospital in Krakow, Cracow, Poland
2   Student Scientific Group of Pediatric Surgery, Department of Pediatric Surgery, Jagiellonian University Medical College, Faculty of Medicine, Cracow, Poland
,
Marek Kachnic 
2   Student Scientific Group of Pediatric Surgery, Department of Pediatric Surgery, Jagiellonian University Medical College, Faculty of Medicine, Cracow, Poland
,
Anna Chrapusta 
1   Malopolska Burn and Plastic Surgery Center, Ludwik Rydygier Memorial Hospital in Krakow, Cracow, Poland
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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.

Keywords

case report - genetic disorders - Proteus syndrome - pediatric plastic surgery

Authors' Contributions

M.K.K.C. was responsible for Conceptualization (Equal), Data curation (Lead), Formal analysis (Lead), Investigation (Lead), Resources (Equal), Writing—original draft (Lead)


M.K. was responsible for Conceptualization (Equal), Data curation (Supporting), Investigation (Supporting), Visualization (Lead), Writing—review and editing (Equal)


A.C. was responsible for Data curation (Supporting), Formal analysis (Supporting), Funding acquisition (Lead), Investigation (Supporting), Project administration (Lead), Resources (Lead), Supervision (Lead), Validation (Lead), Writing—review and editing (Supporting)


Ethical Approval

Approval was obtained from the ethics committee of Regional Medical Chamber in Kraków. This study adheres to the tenets of the Declaration of Helsinki.


Patient Consent

The patients provided written informed consent for the publication and the use of their images.




Publication History

Received: 18 October 2023

Accepted: 03 April 2024

Accepted Manuscript online:
05 April 2024

Article published online:
14 June 2024

© 2024. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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