Neurofibromatose

Overview of Neurofibromatosis

Neurofibromatosis (NF) is a genetic disorder characterised by the growth of benign tumors on nerve tissues. It typically manifests in two forms: Neurofibromatosis Type 1 (NF1) and Neurofibromatosis Type 2 (NF2), both of which can lead to various complications, including skin changes, hearing loss and nerve damage.

Types of Neurofibromatosis

1. Neurofibromatosis Type 1 (NF1): The most common type, often diagnosed in childhood. It causes skin changes such as café-au-lait spots and the growth of benign tumors called neurofibromas.

2. Neurofibromatosis Type 2 (NF2): A rarer form that primarily affects the nervous system, causing tumors on the auditory nerve, which can lead to hearing loss.

Symptoms of Neurofibromatosis

1. NF1: Café-au-lait spots, freckling in the armpits or groin, neurofibromas, Lisch nodules in the eyes and possible learning disabilities.

2. NF2: Tumors on the auditory nerve, leading to hearing loss, balance issues and possible vision impairment.

Causes of Neurofibromatosis

NF1: Caused by a mutation in the NF1 gene located on chromosome 17.

NF2: Caused by mutations in the NF2 gene on chromosome 22.

Complications in Neurofibromatosis

Tumors may cause nerve damage, pain and physical deformities.

In NF2, hearing loss and balance issues are significant risks.

Some individuals may also experience cognitive issues and developmental delays.

Risk Factors of Neurofibromatosis

Family history of neurofibromatosis, particularly if a parent carries the mutated gene.

A family member with NF1 or NF2 increases the risk of inheriting the disorder.

Preventions of Neurofibromatosis

There are no known ways to prevent neurofibromatosis as it is genetic.

Regular monitoring and early diagnosis can help manage symptoms and prevent complications.