Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA)-related overgrowth spectrum: A brief report.
Journal: Pediatric Dermatology
Published:
Abstract
A patient with extensive multisystem overgrowth caused by a somatic gain of function PIK3CA-mutation is described. This case is an example of the clinical diversity of the PIK3CA-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.
Authors
Pieter Denorme, Marie-anne Morren, Silke Hollants, Marijke Spaepen, Kate Suaer, Nele Zutterman, Veerle Labarque, Eric Legius, Hilde Brems
Relevant Conditions