[Neurofibromatosis type 2 and its head and neck manifestations: literature review and population study in the Community of Cantabria and the province of Las Palmas]

Abstract

Introduction and objectives: Neurofibromatosis type 2 (NF2) is an infrequent autosomal dominant disease characterised by the appearance of viii nerve schwannomas, meningiomas and ocular abnormalities. Incidence of 1:25,000 and prevalence above 1:80,000 are estimated in general. The objectives of our study were to determine current prevalence of NF2 in the Community of Cantabria and the province of Las Palmas, and its head and neck manifestations.

Material and methods: This was a population-based, retrospective study in 3 tertiary hospitals.

Results: The study population showed prevalence of 1:600,000 in the Community of Cantabria and 1:280,000 in the province of Las Palmas. The most frequently diagnosed tumour was acoustic neuroma (n=15), followed by trigeminal neurinoma (n=2) and vagus (n=1).

Conclusions: Cases of NF2 are infrequent in Cantabria and Las Palmas, lower than that reported in the literature. The most frequently described head and neck tumour in the literature is acoustic neuroma, followed by schwannoma of cranial nerves v and x. Other tumours such as nasal, laryngeal, chorda tympani or cranial nerve vii schwannomas are also described. The most frequent ENT manifestation is hearing loss, especially unilateral, followed by cervical mass, tinnitus and headache. Early diagnosis and multidisciplinary management in specialised centres could improve life expectancy and quality of life for these patients.

Keywords: Cabeza y cuello; Ear, nose and throat manifestations; Head and neck; Manifestaciones otorrinolaringológicas; Neurofibromatosis tipo ii; Neurofibromatosis type 2.