What is peripheral neurofibromatosis?

What is peripheral neurofibromatosis?

Cutaneous Neurofibromas Peripheral nerves are nerves that are outside the brain and spine. Cutaneous neurofibromas often appear in late childhood or young adulthood. Many tumors may form on the skin and can cause itching or discomfort. These tumors generally do not become cancerous.

When do plexiform neurofibromas appear?

Most cases first develop when people are in their late 20s or early 30s, but they can occur at any age. Symptoms of an MPNST include: the texture of an existing neurofibroma changing from soft to hard. an existing neurofibroma suddenly growing much larger.

What’s the difference between neurofibromatosis 1 and 2?

Neurofibromatosis 1 (NF1): The NF1 gene on chromosome 17 makes a protein called neurofibromin that controls your cells’ growth. The mutation of this gene causes a neurofibromin loss and uncontrolled cell growth. Neurofibromatosis 2 (NF2): The NF2 gene on chromosome 22 makes a protein called merlin or schwannomin.

What does neurofibromatosis look like?

Neurofibromas are tumors, generally non-cancerous, that grow on the nerves of the skin, and sometimes on nerves deeper inside the body. They look like lumps under the skin. In time, more may develop, and they may get bigger. Neurofibromas may be soft, or firm and round.

Do neurofibromas stop growing?

Neurofibromas often start to show up during puberty. They may keep getting bigger for a while but will eventually stop growing. Typically, people gradually develop new ones as they get older.

Can a neurofibroma burst?

As neurofibroma is highly vascular, vessel rupture can occur spontaneously or with trivial trauma.

How do neurofibromas start?

Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis: NF1 . The NF1 gene is located on chromosome 17.

What are the symptoms of a neurofibroma tumor?

Symptoms depend on the location and size of the tumor. Neurofibromas typically are painless and slow-growing. You may feel an electric-like shock when light pressure is applied to the tumor. If a motor or sensory nerve is involved, the associated function may be affected.

What are the symptoms of plexiform neurofibroma ( NF1 )?

Cardiovascular problems. People with NF1 have an increased risk of high blood pressure and may develop blood vessel abnormalities. Breathing problems. Rarely, plexiform neurofibromas can put pressure on the airway. Cancer. An estimated 3 to 5 percent of people with NF1 develop cancerous tumors.

What are the side effects of neurofibromatosis ( NF2 )?

Complications of NF2 include: Partial or total deafness Facial nerve damage Vision problems Small benign skin tumors (skin schwannomas) Weakness or numbness in the extremities Multiple benign brain tumors or spinal tumors (meningiomas) requiring frequent surgeries

When to see a doctor for a neurofibroma?

Neurofibromas growing deep in the body can cause pain, numbness, tingling or weakness if they press on nerves. This is more likely to be associated with NF1 than sporadic neurofibromas. A severely painful neurofibroma should be looked at by a doctor who can make sure it has not become cancerous.