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Neurofibromatosis I and II

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Neurocutaneous Disorders

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Abstract

With an incidence between 1:2500 and 1:3000, neurofibromatosis type 1 (NF1) is the most frequent autosomal disorder leading to tumour formation in the central and peripheral nerve system (CNS, PNS). Individuals with NF1 are at risk of developing benign neurofibromas, malignant peripheral nerve sheath tumours, optic pathway gliomas, breast cancer, leukaemia, phaeochromocytoma and rhabdomyosarcoma. Progress in understanding the biology of the disease demonstrated that in addition to tumour formation, alterations in the NF1 gene are responsible for multisystem disease affecting cognition, bone and vascular structures. In the last decade, “targeted therapy for NF1” was introduced for different affected domains, such as cognition, bone health and plexiform neurofibromas.

Neurofibromatosis type II (NF2) also features tumours of the CNS and PNS as well as an autosomal dominant inheritance, but with an incidence of 1:33,000, it is ten times less frequent than NF1. Its main features comprise multiple benign tumours of CNS and PNS (schwannomas, meningiomas, ependymomas), ophthalmic abnormalities (e.g. reduced visual acuity induced by cataract) and skin tumours. Patients with NF2 usually present with unilateral hearing loss, tinnitus or imbalance due to bilateral vestibular schwannomas. This chapter described all characteristics of the disease.

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  1. Neurological Clinic, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Victor-Felix Mautner

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  1. Department of Paediatric Neurology and Developmental Neurology, Aristotle University of Thessaloniki, Thessaloniki, Greece

    Christos P. Panteliadis

  2. Department of Neurology, University of Washington, Seattle, WA, USA

    Ramsis Benjamin

  3. Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

    Christian Hagel

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Mautner, VF. (2022). Neurofibromatosis I and II. In: Panteliadis, C.P., Benjamin, R., Hagel, C. (eds) Neurocutaneous Disorders. Springer, Cham. https://doi.org/10.1007/978-3-030-87893-1_26

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