• 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