DOI: 10.7126/cumudj.1777293 ISSN: 1302-5805

Plexiform Neurofibroma of the Greater Palatine Nerve as an Early Oral Manifestation of Neurofibromatosis Type 1: A case report

Dilara Nur Şengün, Öykü Öztürk Gündoğdu, Ömer Can Manav, Ömer Faruk Kocamaz
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Neurofibromatosis type 1 (NF1) is a multisystemic autosomal dominant disorder with highly variable clinical expression, including both cutaneous and oral manifestations. Oral neurofibromas are rare and frequently underrecognized features that may result in diagnostic delays. We report the case of a male patient in his 30s, presenting with a dwarf-like appearance and scoliosis, who was referred due to a long-standing, asymptomatic palatal swelling associated with repeated dental implant failures. Clinical examination revealed a soft-tissue mass encasing the greater palatine nerve, which was surgically excised. Histopathological analysis confirmed the diagnosis of diffuse plexiform neurofibroma, while genetic testing identified a c.75_76del (p.Gly26fs) NF1 mutation. This case highlights the need for clinicians to consider NF1 in the differential diagnosis of persistent intraoral swellings and underscores the potential role of rare oral manifestations as early indicators of systemic disease. Moreover, the successful use of a dermal collagen matrix for secondary wound healing following excision demonstrates a valuable reconstructive option for soft-tissue management in similar cases. Early recognition of oral lesions in NF1 not only facilitates appropriate diagnosis and genetic counseling but also contributes to the prevention of treatment complications, such as repeated implant failure, thereby improving patient outcomes.

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