Otolaryngologic manifestations of neurofibromatosis in children

Abstract

Objective: Neurofibromatosis (NF) is a genetic disease with a wide variety of clinical manifestations. Eight patients with otolaryngologic manifestations of NF are presented. This represents 4.9% of all NF patients currently registered at the NF clinic at the Montreal Children's Hospital.

Methods: Clinical manifestations are divided into cosmetic and functional categorizations.

Results: Five patients presented with cosmetic deformities, the most common being an enlarging facial mass. Three patients presented with functional impairments, the most common being hearing loss and airway obstruction. Radiologic findings include the presence of plexiform neurofibromas and airway obstruction. Management was individualized to improve cosmesis and/or function. In the literature, the incidence of head and neck manifestations in patients with NF varies between 14% and 37%. Cosmetic lesions include pigmentary changes (café-au-lait spots), prominent neurofibromas, and osseous lesions. Functional deficits include hearing loss, speech and voice abnormalities, airway obstruction, dysphagia, facial paresis, lip incompetence, and impaired mastication. Diagnosis of NF-1 (classic von Recklinghausen's disease) and NF-2 (bilateral acoustic schwannomas) can be made using specific criteria. Management of patients with NF is individualized depending on the cosmetic deformity, functional impairment, and/or malignant potential of tumours. NF is progressive and has no cure. Prognosis depends on individual clinical manifestations, surgical resectability, and the potential for sarcomatous degeneration.

Conclusion: This study provides a unique classification of the otolaryngologic findings in NF, giving the otolaryngologist an operable framework for diagnosis, treatment and prognosis.