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

Authors :
Denorme, Pieter
Morren, Marie‐Anne
Hollants, Silke
Spaepen, Marijke
Suaer, Kate
Zutterman, Nele
Labarque, Veerle
Legius, Eric
Brems, Hilde
Source :
Pediatric Dermatology; May2018, Vol. 35 Issue 3, pe186-e188, 3p, 2 Color Photographs, 1 Chart
Publication Year :
2018

Abstract

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. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
07368046
Volume :
35
Issue :
3
Database :
Complementary Index
Journal :
Pediatric Dermatology
Publication Type :
Academic Journal
Accession number :
129573449
Full Text :
https://doi.org/10.1111/pde.13441