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

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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 e...

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Detalles Bibliográficos
Autores principales: Koutlas, Ioannis G., Anbinder, Ana-Lia, Alshagroud, Rana, Rodrigues Cavalcante, Ana Sueli, Al Kindi, Mohammed, Crenshaw, Molly M., Sapp, Julie C., Kondolf, Hannah, Lindhurst, Marjorie J., Dudley, Jeffrey N., Johnston, Jennifer J., Ryan, Elyse, Rafferty, Keith, Ganguly, Arupa, Biesecker, Leslie G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8756490/
https://www.ncbi.nlm.nih.gov/pubmed/35047831
http://dx.doi.org/10.1016/j.xhgg.2020.100009
Descripción
Sumario: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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