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

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.

Source: Pediatric Dermatology - March 1, 2018 Category: Dermatology Authors: Pieter Denorme, Marie ‐Anne Morren, Silke Hollants, Marijke Spaepen, Kate Suaer, Nele Zutterman, Veerle Labarque, Eric Legius, Hilde Brems Tags: BRIEF REPORT Source Type: research