Revised Clinical Overview of CLOVES Syndrome: Pathogenesis, Diagnosis, Management, and Prognosis – With Reference to Current Guidelines and Evidence
1. Definition and Classification CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Skeletal/Spinal Anomalies) is a rare, complex mosaic overgrowth disorder belonging to the broader category of PIK3CA-Related Overgrowth Spectrum (PROS). It results from postzygotic, somatic gain-of-function mutations in the PIK3CA gene (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), located on chromosome 3q26.32. Key Diagnostic Clarification:…
