Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Ioannis G. Koutlas; Ana-Lia Anbinder; Rana Alshagroud; Ana Sueli Rodrigues Cavalcante; Mohammed Al Kindi; Molly M. Crenshaw; Julie C. Sapp; Hannah Kondolf; Marjorie J. Lindhurst; Jeffrey N. Dudley; Jennifer J. Johnston; Elyse Ryan; Keith Rafferty; Arupa Ganguly; Leslie G. Biesecker

doi:10.1016/j.xhgg.2020.100009

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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

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Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum

Ioannis G. Koutlas, Ana-Lia Anbinder, Rana Alshagroud, Ana Sueli Rodrigues Cavalcante, Mohammed Al Kindi, Molly M. Crenshaw, Julie C. Sapp, Hannah Kondolf, Marjorie J. Lindhurst, Jeffrey N. Dudley, …

HGG advances, Vol.1(1), pp.100009-100009

22/10/2020

DOI: https://doi.org/10.1016/j.xhgg.2020.100009

PMID: 35047831

Abstract

face

oral mucosa

overgrowth

perineurium

peripheral nerve

PIK3CA

pseudo-onion bulbs

Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this article, we describe three individuals with this clinical entity and mosaic PIK3CA variants c.3140A>G (p. His1047Arg), c.328_330delGAA (p. Glu110del), and c.1353_1364del (p.Glu453_Leu456del). We conclude that the identification of these mosaic variants in individuals with orofacial asymmetry presenting histopathologically perineurial hyperplasia and/or intraneural pseudo-onion bulb perineurial cell proliferations supports the inclusion of this clinical entity in the PIK3CA- related overgrowth spectrum.

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Title: Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
Creators - without role: Ioannis G. Koutlas - University of Minnesota
Ana-Lia Anbinder - Universidade Estadual Paulista (Unesp)
Rana Alshagroud - King Saud University
Ana Sueli Rodrigues Cavalcante - Universidade Estadual Paulista (Unesp)
Mohammed Al Kindi - King Saud University
Molly M. Crenshaw - National Human Genome Research Institute
Julie C. Sapp - National Human Genome Research Institute
Hannah Kondolf - National Human Genome Research Institute
Marjorie J. Lindhurst - National Human Genome Research Institute
Jeffrey N. Dudley - National Human Genome Research Institute
Jennifer J. Johnston - National Human Genome Research Institute
Elyse Ryan - University of Pennsylvania
Keith Rafferty - University of Pennsylvania
Arupa Ganguly - University of Pennsylvania
Leslie G. Biesecker - National Human Genome Research Institute
Publication Details: HGG advances, Vol.1(1), pp.100009-100009
Publisher: Elsevier
Identifiers: 9949747708331
Academic Unit: King Saud University
Language: English
Resource Type: Journal article