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

Ann Med Surg (Lond). 2023 Apr 7;85(5):2001-2006. doi: 10.1097/MS9.0000000000000485. eCollection 2023 May.

Abstract

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: CLOVES syndrome; PIK3CA-related overgrowth spectrum (PROS); case report; computed tomography angiography; magnetic resonance imaging (MRI).