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

ABSTRACT: 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.

SUBMITTER: Koutlas IG 

PROVIDER: S-EPMC8756490 | biostudies-literature | 2020 Oct

REPOSITORIES: biostudies-literature

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

Koutlas Ioannis G IG   Anbinder Ana-Lia AL   Alshagroud Rana R   Rodrigues Cavalcante Ana Sueli AS   Al Kindi Mohammed M   Crenshaw Molly M MM   Sapp Julie C JC   Kondolf Hannah H   Lindhurst Marjorie J MJ   Dudley Jeffrey N JN   Johnston Jennifer J JJ   Ryan Elyse E   Rafferty Keith K   Ganguly Arupa A   Biesecker Leslie G LG  

HGG advances 20200814 1

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 <i>PIK3CA</i> 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  ...[more]

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