Neurofibromatoses: Not A Death Sentence All You Need To Know

Neurofibromatoses

Neurofibromatoses are a category of genetic disorders characterized by the development of tumors on nerve tissue. Tumors in the nervous system, including the brain, spinal cord, and nerves, can form anywhere in the body.

Neurofibromatosis is divided into three types: neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis. NF1 is usually discovered in childhood, whereas NF2 and schwannomatosis are discovered in early adulthood.

The tumors in these conditions are typically benign (noncancerous), but they can become cancerous at times (malignant).

The signs and symptoms are generally mild. Hearing loss, learning disabilities, heart and blood vessel (cardiovascular) defects, vision loss, and extreme pain are also possible symptoms of neurofibromatosis.

Treatment for neurofibromatosis focuses on promoting healthy growth and development in children with the condition, as well as early management of complications.

Surgery may help people with neurofibromatosis that have massive tumors or tumors that push on a nerve. Other procedures, such as stereotactic radiosurgery or pain killers, can be helpful to certain people. Children’s tumors will now be treated with a new drug, and other new drugs are in the works.

Neurofibromatosis is divided into three forms, each with its own set of signs and symptoms.

Neurofibromatosis 1

Neurofibromatosis type 1 (NF1) is most often diagnosed in children. Signs are always visible at birth or shortly thereafter, and almost always by the age of ten. The signs and symptoms are usually mild to moderate, but the severity can vary.

Signs and symptoms include:

Body with flat, light brown spots (cafe au lait spots). Many people have these apparently harmless spots.

The presence of more than six cafe au lait sites demonstrates NF1. They usually appear shortly after birth or in the first few years of life. After childhood, new spots are less likely to emerge.

In the armpits or groin area, there is a fluttering sensation. Freckling typically occurs between the ages of three and five.

Freckles are smaller than cafe au lait spots and appear in clusters in the folds of the skin.
Iris bumps are small bumps on the eye’s iris (Lisch nodules).

These non-cancerous nodules are difficult to notice and have little effect on vision.

On or beneath the skin, soft, pea-sized bumps (neurofibromas). These benign tumors are most often located in or under the skin, but they may also grow within the body.

A growth may often require a large number of nerves (plexiform neurofibroma). When plexiform neurofibromas appear on the face, they may be disfiguring. The number of neurofibromas may increase as people get older.

Deformities of the bones. Bone deformities such as a bent spine (scoliosis) or a bowed lower leg may be caused by abnormal bone growth and a lack of bone mineral density.

On the optic nerve, there is a tumor (optic glioma).

These tumors typically develop by the age of three, with a few exceptions in late childhood and adolescence, and adults.

Learning disabilities are a form of learning disability. In children with NF1, impaired thinking skills are normal, but they are typically mild.

A particular learning difficulty, such as a struggle with reading or mathematics, is often present. Attention deficit hyperactivity disorder (ADHD) and delayed speech are also normal.
Head size is larger than normal. Owing to increased brain volume, children with NF1 have a greater than average head circumference.

A person of short stature. Children with NF1 are often shorter than their peers.

Neurofibromatosis 2

Neurofibromatosis type 2 (NF2) is much less common than neurofibromatosis type 1. The formation of benign, slow-growing tumors in both ears (acoustic neuromas), which can cause hearing loss, is typically the cause of NF2 signs and symptoms. These tumors, also known as vestibular schwannomas, grow on the nerve that transmits sound and balance data from the inner ear to the brain.

The signs and symptoms usually begin in late adolescence or early adulthood, and they may be mild or severe. The following are examples of signs and symptoms:

Gradual hearing loss
Ringing in the ears
Poor balance
Headaches

Other nerves, such as the cranial, spinal, visual (optic), and peripheral nerves, may often develop schwannomas as a result of NF2. Other benign tumors may form in people with NF2.

Signs and symptoms of these tumors can include:

Numbness and weakness in the arms or legs
Pain
Balance difficulties
Facial drop
Vision problems or cataracts
Seizures
Headache

Causes

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 is an abbreviated form of the word On chromosome 17, the NF1 gene is found. This gene produces a protein called neurofibromin, which aids in cell growth regulation. Neurofibromin is lost when a gene is mutated, causing cells to expand uncontrollably.

The abbreviation NF2 is made up of two letters. The NF2 gene, which is located on chromosome 22, produces the tumor-suppressing protein merlin (also known as schwannomin). The mutated gene causes merlin to be lost, resulting in uncontrolled cell growth.

Schwannomatosis is a disease that affects the skin. Schwannomatosis has been linked to two genes so far. This form of neurofibromatosis is related to mutations in the tumor-suppressing genes SMARCB1 and LZTR1.

A family history of neurofibromatosis is the most significant risk factor for the disease. Around half of people with NF1 and NF2 got the disease from a parent who had it. People with NF1 and NF2 who have no affected relatives are likely to have a new gene mutation.

Both NF1 and NF2 are autosomal dominant diseases, which means that every offspring of a parent with the disease has a 50% chance of inheriting the genetic mutation.

For schwannomatosis, the inheritance pattern is less evident. According to current research, the chance of inheriting schwannomatosis from a parent with the disease is around 15%.

Complications

Also within the same family, neurofibromatosis complications differ. Complications are most often caused by tumors that damage nerve tissue or push on internal organs.

NF1 complications

Problems with the nervous system. The most common neurological disorders associated with NF1 are learning and thinking difficulties. Epilepsy and an accumulation of excess fluid in the brain are two uncommon complications.

Concerns concerning one’s appearance Even if neurofibromatosis isn’t medically severe, visible symptoms of the disease, such as extensive cafe au lait spots, several neurofibromas in the facial region, or large neurofibromas, can cause anxiety and emotional distress.

Skeletal issues. Some children’s bones are abnormally shaped, resulting in leg bowing and fractures that don’t always heal. Scoliosis (curvature of the spine) caused by NF1 may require bracing or surgery. NF1 is also linked to a reduction in bone mineral density, which raises the risk of developing weak bones (osteoporosis).

Issues with vision. Optic glioma is a tumor that forms on the optic nerve and may cause vision loss.

Problems that arise as a result of hormonal changes. Neurofibromas can increase as a result of hormonal changes associated with puberty or pregnancy. The majority of women with NF1 have safe pregnancies, but they may need to be closely monitored by an obstetrician who is familiar with the condition.

Cardiovascular problems. People who have 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% of people who have NF1 develop cancerous tumors.

These usually arise from neurofibromas under the skin or from plexiform neurofibromas.

Some cancers, such as breast cancer, leukemia, colorectal cancer, brain tumors, and certain types of soft tissue cancer, are more common in people with NF1. Women with NF1 can begin breast cancer screening at a younger age than the general population.

Adrenal gland tumor that is benign (pheochromocytoma). Hormones secreted by this noncancerous tumor increase blood pressure. The pheochromocytoma is normally removed by surgery.

Grace Ihesiulo

Grace is a prolific writer, a Broadcast journalist and a voice over specialist.