Neurofibroma

Etiology • A benign neoplasm of peripheral nerve • Concomitant proliferation of perineural fibroblasts and
Schwann cells • Multiple lesions suggest neurofibromatosis syndrome. • Syndromic form associated with autosomal-dominant inheri-
tance pattern due to mutation of NF1 or NF2 genes
Clinical Presentation • Tongue, buccal mucosa, mucobuccal fold most common sites • Soft tissue findings: discrete nodules or diffuse lobular lesions • Skin lesions with syndromic forms: café-au-lait macules,
(characteristically six or more); uniform pigmentation with smoothly contoured borders

Radiographic Findings (When Intrabony Lesions Are Present) • “Blunderbuss” expansion of inferior alveolar foramen • Uniformly expanded alveolar canal in body of mandible
Microscopic Findings • Usually unencapsulated mass of spindle cells with gently wavy
to twisted nuclei • Stromal background is delicately fibrillar • Scattered mast cells in lesions
Diagnosis • Microscopic findings
Differential Diagnosis • Localized neurofibroma
• Neuroma • Fibroma
• Widespread neurofibroma • MEN 2b/III • Proteus syndrome
Treatment • When solitary, excision • When multiple, verification of the diagnosis, and treatment
directed toward function and/or esthetics
Prognosis • When isolated, excellent • When syndrome related, up to 15% risk of malignant transfor-
mation to neurogenic sarcoma