Traumatic Neuroma of the Lower Lip

ABSTRACT Traumatic neuroma is a rare disorder that represents a reactive proliferation of neural tissue following damage to an adjacent nerve. Clinically, oral lesions usually appear as a nodule of normal or grayish white smooth surface colouration, and patients may complain of pain as a frequent symptom. We report a case of a painless lower lip traumatic neuroma, clinically misdiagnosed as lipoma, in a 24-year old Caucasian woman. On intraoral examination, a yellowish and smooth sessile, well-delimited, painless, nodular lesion measuring 10 mm x 7 mm x 4 mm in size was observed on the mucosal lower lip. An excisional biopsy was performed and the final diagnosis was traumatic neuroma. After 18 months of follow-up, the patient is asymptomatic and there are no signs of recurrence. Neuroma Traumático del Labio Inferior RESUMEN El neuroma traumático es un trastorno raro que consiste en una proliferación reactiva del tejido neural tras producirse un daño en un nervio adyacente. Clínicamente, las lesiones orales normalmente aparecen como un nódulo de coloración normal o blanca grisácea, de superficie lisa, y los pacientes pueden quejarse de dolor como síntoma frecuente. Reportamos el caso de un neuroma traumático del labio inferior labio sin dolor, clínicamente mal diagnosticado como lipoma, en una mujer blanca de 24 años. En el examen intraoral, se observó una lesión nodular amarillenta, sésil, lisa, bien delimitada, e indolora, que medía 10 mm x 7 mm x 4 mm de tamaño, en la mucosa del labio inferior. Se realizó una biopsia, y el diagnóstico final fue un neuroma traumático. Después de 18 meses de seguimiento, el paciente se halla asintomático y no hay ninguna señal de recurrencia

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

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.Division of Oral and Maxillofacial Pathology University of MinnesotaSão Paulo State University (Unesp) Institute of Science and Technology, São José dos CamposKing Saud UniversityMedical Genomics and Metabolic Genetics Branch National Human Genome Research InstituteGenetic Diagnostic Laboratory University of Pennsylvania Perelman School of MedicineSão Paulo State University (Unesp) Institute of Science and Technology, São José dos Campo