Phosphatidylinositol‐4,5‐bisphosphate 3‐kinase catalytic subunit alpha (PIK3CA)‐related overgrowth spectrum: A brief report

摘要

Abstract A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK 3 CA ‐mutation is described. This case is an example of the clinical diversity of the PIK 3 CA ‐Related Overgrowth Spectrum ( PROS ) as the patient had overlapping features of Congenital Lipomatous Overgrowth Vascular malformations Epidermal nevi and Skeletal abnormalities ( CLOVES ) syndrome and Megalencephaly‐Capillary malformation Polymicrogyria ( MCAP ) syndrome and underlines the utility of this umbrella term.