What is NF?

The Neurofibromatoses (NF) are genetic disorders of the nervous system which cause tumors to form on the covering of the nerves anywhere in the body at any time including the skin and eyes. They are progressive disorders which affect all races and both sexes equally, and may be associated with deafness, blindness, disfigurement, seizures, and cancer.

Types of Neurofibromatosis

There are three main types of NF, each with distinct characteristics:

Neurofibromatosis Type 1 (NF1) estimated to occur in 1 of 2,500 births.

Also known as von Recklinghausen NF or peripheral NF, NF1 is the most common type. It is characterized by:

• Multiple café-au-lait spots (light brown skin patches)
• Freckling in the armpits or groin area
• Lisch nodules (tiny bumps on the iris of the eye)
• Neurofibromas (benign skin tumors)
• Bone deformities
• Learning disabilities
• Epilepsy
• Blindness
• Hearing loss

NF1 is usually diagnosed in childhood.

Neurofibromatosis Type 2 (NF2) estimated to occur in 1 of 25,000 births.

NF2 is less common and is characterized by:

• Vestibular schwannomas (benign tumors on the nerve that carries sound and balance information from the inner ear to the brain)
• Hearing loss
• Ringing in the ears (tinnitus)
• Poor balance
• Skin tumors
• Cataracts at an early age
• Other eye findings including retinal abnormalities and orbital meningiomas

NF2 typically presents in late adolescence or early adulthood.

Schwannomatosis

The rarest type, Schwannomatosis, involves the development of multiple schwannomas (tumors of the peripheral nerves) everywhere in the body except on the vestibular nerve. Symptoms include:

• Chronic pain
• Numbness or weakness in various parts of the body

Causes and Diagnosis

Neurofibromatosis is caused by genetic mutations. In NF1 and NF2, the mutations can be inherited from a parent or occur spontaneously. Schwannomatosis's genetic cause is less understood.

Diagnosis is based on clinical criteria and may involve:

• Physical examination
• Family history
• Imaging tests such as MRI
• Genetic testing

Treatment and Management

There is no cure for NF, but treatments focus on managing symptoms and complications. This might include:

• Surgery to remove tumors
• Medication for pain
• Therapy for learning disabilities
• Regular monitoring for complications like hearing loss or high blood pressure

Living with Neurofibromatosis

Living with NF can be challenging due to its unpredictable nature. Support from healthcare providers, family, and support groups can be invaluable.