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Case Reports
. 2018 May;35(3):e186-e188.
doi: 10.1111/pde.13441. Epub 2018 Mar 1.

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

Pieter Denorme  1 , Marie-Anne Morren  1 , Silke Hollants  2 , Marijke Spaepen  2 , Kate Suaer  3 , Nele Zutterman  4 , Veerle Labarque  5 , Eric Legius  2   6 , Hilde Brems  6
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Case Reports

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

Pieter Denorme et al. Pediatr Dermatol. 2018 May.

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.

Keywords: CLOVES syndrome; MCAP syndrome; PIK3CA-related overgrowth spectrum; PROS; mosaicism; overgrowth syndrome; somatic mutation.

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