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PIK3CA-related overgrowth spectrum (PROS): a rare case report

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Study Design: Case report. Introduction and Importance: The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. Case Presentation: A 12-year-old boy presented with… Click to show full abstract

Study Design: Case report. Introduction and Importance: The purpose of this study is to report an extremely rare case of PIK3CA-related overgrowth spectrum. Case Presentation: A 12-year-old boy presented with severe overgrowth in the left lower limb causing severe movement restriction and decreased quality of life. Interventions and Outcome: Episodes of myiasis were manually treated through mechanical removal and the patient was placed on rapamycin therapy for managing vascular malformations. Conclusion: CLOVES syndrome is a rare overgrowth disorder that can be confused with other overgrowth syndromes; however, clinical and imaging findings are essential for pinpointing the correct diagnosis as genetic sequencing may not always prove reliable.

Keywords: rare case; pik3ca related; report; case report; related overgrowth; case

Journal Title: Annals of Medicine and Surgery
Year Published: 2023

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