• Neurofibromatosis is caused by genetic mutations that are either inherited or are acquired spontaneously.
• The disease follows an autosomal dominant pattern of inheritance which means that a child can be affected even if one defective gene is inherited.
• Mutations (defects) in NF1 gene result in abnormal/no neurofibromin protein which causes NF1. defects in NF2 gene cause abnormality in/loss of protein called merlin leading to NF2 disease. Both these proteins have a role in cell growth regulation.
• The risk factors include:
• Family history

Complications of NF1

• Neurological Problems
• Skeletal Problems
• Vision Problems
• Cardiovascular Problems
• Hypertension
• Short stature
• Large head
• Breathing Problems
• Cancer
• Benign adrenal gland tumor

Complications of NF2

• Partial or total deafness
• Facial nerve damage
• Vision problems
• Small benign skin tumors
• Weakness or numbness in the extremities
• Multiple benign tumors or spinal tumors

Complications of Schwannomatosis

• Debilitating pain requiring surgical treatment

The condition cannot be cured, but symptoms can be reduced with the following treatments. It includes surgery, chemotherapy and radiation to cure or remove cancerous tumors.

Medication

Anticonvulsants: Have nerve-calming qualities that help relieve nerve pain.

Gabapentin . Pregabalin . Topiramate . Carbamazepine

Tricyclic antidepressants: Help in treating neuropathic pain.

Amitriptyline

Serotonin and norepinephrine reuptake inhibitors (SNRIs): Are a class of anti-depressant drugs. Some drugs, however, are used to treat nerve pain.

Duloxetine . Tramadol