Diffuse Maxillofacial Neurofibromas with Orbital and Cranial Extension Suggestive of Neurofibromatosis Type I: A...

Diffuse maxillofacial neurofibromas with orbital and cranial extension are rare manifestations of suspected Neurofibromatosis Type I (NF1). These tumors present diagnostic and therapeutic challenges, particularly in low resource settings.

Two Ugandan patients with diffuse maxillofacial neurofibromas are described. A 13-year-old girl developed early-onset, rapidly progressive right facial swelling with bilateral orbital involvement, monocular blindness, and sphenoid bone destruction. Multiple café-au-lait macules were present with bilateral Lisch nodules but absent skeletal deformities. Histopathology and immunohistochemistry confirmed diffuse neurofibroma. Conservative debulking was performed with a stable but cosmetically disfiguring outcome. A middle-aged man presented with a 15-year history of right facial swelling following trauma, associated with proptosis, trismus, hearing loss, and intraoral masses. Imaging revealed tumor extension to the skull base. Initial biopsy was suggestive of a myofibroblastic tumor, but final excisional biopsy confirmed neurofibroma. Partial resection undertaken due to extensive involvement, left a residual tumor under surveillance. Both patients had café-au-lait macules and Lisch nodules but did not fully meet NIH criteria for NF1, and genetic testing was unavailable.

The cases highlight diagnostic uncertainty of NF1 in low-resource environments, were reliance on clinical and radiological features substitutes for genetic confirmation. Pediatric disease tends to be more aggressive with earlier morbidity, while adult disease shows slower but infiltrative growth. Conservative surgery and multidisciplinary care are key to preserving function and quality of life, underscoring the need for long-term follow-up and access to emerging targeted therapies.