Pediatric Proteus syndrome: A rare case report with focus on clinical management and long-term outcomes

Proteus syndrome (PS) is a rare mosaic genetic disorder caused by а somatic mutations in the AKT1 gene, resulting in asymmetric overgrowth of skin, skeleton, soft tissues, and internal organs. Progressive tissue expansion and vascular anomalies increase the risk of functional impairment and thromboembolic complications. Aim of the paper was to describe the clinical presentation, diagnostic evaluation, and management of a pediatric patient with PS, highlighting the role of multidisciplinary care. Case report: A 4-year-old girl presented with right upper limb overgrowth and a soft-tissue mass in the pectoral region. Diagnosis was confirmed via clinical assessment, radiologic imaging, and genetic testing for AKT1 mutation. Surgical excision of hypertrophic tissue was performed, and histopathology confirmed a benign lipomatous lesion. A two-year follow-up included monitoring of functional outcomes and disease recurrence. Postoperative recovery was uneventful, with primary wound healing. Progressive hypertrophy necessitated a second surgical intervention. Multidisciplinary follow-up facilitated timely management of emerging complications without major adverse events. Conclusion: PS requires early diagnosis and individualized, multidisciplinary management. Surgical interventions improve function, but long-term surveillance is essential due to the progressive nature of the disorder.