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Órgano Oficial de la Sociedad Mexicana de Ortopedia Pediátrica

2025, Number 1-3

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Rev Mex Ortop Ped 2025; 27 (1-3)

PIK3CA-related overgrowth spectrum (PROS): case report and literature review

Arenas DAL, Díaz BKJ

Language: Spanish
References: 14
Page: 34-40
PDF size: 1085.94 Kb.


ABSTRACT

Introduction: the PIK3CA-Related Overgrowth Spectrum (PROS) includes rare conditions characterized by segmental tissue overgrowth, vascular malformations, and other multisystem anomalies. These are caused by somatic mutations in the PIK3CA gene during embryogenesis. Objective: to describe the clinical findings, diagnostic approach, and physiopathology of PROS through the report of a representative case and literature review. Material and methods: a male patient with suspected idiopathic scoliosis was evaluated. Clinical examinations, radiologic studies, and genetic testing were performed. A literature review was also conducted to support the findings. Results: the patient presented with bilateral foot overgrowth, limb length discrepancy, and a dorsal soft tissue mass. Radiologic studies revealed no scoliosis, but widening of intermetatarsal spaces and elongated calcanei. Genetic testing for PIK3CA mutations was performed. Clinical and radiologic findings were suggestive of a diagnosis within the PROS spectrum. Conclusions: PROS represents a heterogeneous group of overgrowth syndromes with significant clinical and functional repercussions. Clinical identification supported by imaging studies and molecular testing, along with a multidisciplinary approach, are essential for its diagnosis and management.


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