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

Research output: Contribution to journalArticlepeer-review

5 Scopus citations

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.

Original languageEnglish (US)
Article number100009
JournalHuman Genetics and Genomics Advances
Volume1
Issue number1
DOIs
StatePublished - Oct 22 2020

Bibliographical note

Funding Information:
The research was partially funded by the Oral Pathology Research Fund, University of Minnesota, School of Dentistry. The authors are grateful to Mr. Brian Dunnette of the University of Minnesota for his assistance with the illustrations.

Publisher Copyright:
© 2020 The Author(s)

Keywords

  • PIK3CA
  • face
  • oral mucosa
  • overgrowth
  • perineurium
  • peripheral nerve
  • pseudo-onion bulbs

Fingerprint

Dive into the research topics of 'Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum'. Together they form a unique fingerprint.

Cite this