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Understand neurofibromatosis


Neurofibromatosisis a set of genetic diseases, an artificial grouping of diseases with different manifestations, epidemiology, and genetics. Both neurofibromatosis type 1 and type 2 are linked to mutations in tumour suppressor genes. Schwannomatosis is still currently being explored for the identification of predisposing genes. The transmission of neurofibromatosis occurs in an autosomal dominant manner, meaning that an affected parent transmits the disease to his or her offspring at a rate of one in two. This is the so-called "familial form" of neurofibromatosis. However, a large proportion of patients have no affected parents (50%). In that case, this is referred as a "sporadic case".

The group of neurofibromatosis includes the following diseases:

  • Neurofibromatosis type 1 (NF1), including its mosaic or segmental forms
  • Neurofibromatosis type 2 (NF2).
  • Schwannomatosis.

All three diseases are characterised by the presence of benign tumours of the nerve sheaths. Legius syndrome is also commonly associated to this group, since it is the main differential diagnosis of neurofibromatosis type 1.

Therefore, one can consider that these four pathologies are grouped together for historical reasons. Their different genetic mechanisms tend to empower them. In the same way, the management of affected patients depends on the exact diagnosis of their neurofibromatosis, which will be the first step in the personalised care plan

In this website, we focus on these four pathologies and share the list of centres dedicated to their management and treatment. We also include a didactic chapter dedicated to genetics, written by the team of the medical genetics department of the coordinating site of the referralcentre, the Henri-Mondor Hospital, APHP, UPEC, Créteil.