A General Introduction to Neurofibromatosis

Neurofibromatosis (NFM) is an autosomal dominant genetic disorder characterized by neurological and cutaneous lesions. They constitute a spectrum of diseases presenting with a wide range of clinical manifestations, including both benign and malignant tumors of central and peripheral nervous system. Some cases may present with manifestations outside the nervous system; hence the diagnosis can be challenging. Neurofibromatosis 1 (NF1/von Recklinghausen’s disease) accounts for most of the patients (85%) of NFM, followed by neurofibromatosis 2 (NF2) and a more recently recognized third form known as schwannomatosis. Here, we have attempted to review the diagnostic criteria, pathogenesis, molecular biology, myriad presentations and manifestations of different types of NFM. A multidisciplinary team effort with a deep understanding of the disorder and basic laboratory and clinical investigations with early implementation of the treatment can lead to excellent results.