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
Affiliations
Ioannis G. Koutlas
Division of Oral and Maxillofacial Pathology, University of Minnesota, Minneapolis, MN, USA; Corresponding author
Ana-Lia Anbinder
São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil
Rana Alshagroud
King Saud University, Riyadh, Saud Arabia
Ana Sueli Rodrigues Cavalcante
São Paulo State University (Unesp), Institute of Science and Technology, São José dos Campos, SP, Brazil
Mohammed Al Kindi
King Saud University, Riyadh, Saud Arabia
Molly M. Crenshaw
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Julie C. Sapp
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Hannah Kondolf
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Marjorie J. Lindhurst
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Jeffrey N. Dudley
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Jennifer J. Johnston
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Elyse Ryan
Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Keith Rafferty
Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Arupa Ganguly
Genetic Diagnostic Laboratory, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
Leslie G. Biesecker
Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA
Summary: 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.
