Neurofibromatosis Causes And Symptoms
Neurofibromatosis (NF) is a set of 3 states where tumors grow in the nervous system. The three types are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. Back in NF1 symptoms comprise light brownish spots on the skin, freckles from the armpit and groin, little bumps within nerves, also scoliosis. In NF2 there might be hearing loss, cataracts in a youthful age, equilibrium difficulties, flesh-colored skin flaps, and muscle wasting. The tumors are usually noncancerous.
The reason is a hereditary mutation in some specific genes. In half of the instances these are inherited from an individual’s parents whilst at the remainder, they happen throughout early growth. The tumors involve encouraging cells from the nervous system in contrast to the neurons. Back in NF1 the tumors are neurofibromas (tumors of the peripheral nerves), whereas in NF2 and schwannomatosis tumors of Schwann cells are somewhat more prevalent. Diagnosis is typically dependent on the symptoms and signs and sometimes supported by genetic testing.
Neurofibromatosis is a genetic disorder that causes tumors to form on nerve tissue. These tumors can develop anywhere in your nervous system, including your brain, spinal cord and nerves. Neurofibromatosis is usually diagnosed in childhood or early adulthood.
The tumors are usually noncancerous (benign), but sometimes can become cancerous (malignant). Symptoms are often mild. However, complications of neurofibromatosis can include hearing loss, learning impairment, heart and blood vessel (cardiovascular) problems, loss of vision, and severe pain.
Symptoms of neurofibromatosis causes
There are three types of neurofibromatosis, each with different signs and symptoms.
Neurofibromatosis 1
Neurofibromatosis 1 (NF1) generally appears in childhood. Signs tend to be evident at birth or soon afterward, and nearly constantly by age 10. Signs and symptoms tend to be mild to medium, but can change in seriousness.
Signs and symptoms include:
Freckling in the armpits or groin area. Freckling generally appears by ages 3 to 5. Freckles are smaller compared to cafe au lait spots and have a tendency to occur in clusters in the skin folds.
Flat, light brown spots on the skin (cafe au lait spots). These harmless areas are common in a lot of men and women. Having over six cafe au lait areas is a powerful sign of NF1. They are often found at birth or appear during the initial years of life and then stabilize.
Tumor on the optic nerve (optic glioma). These tumors usually appear by age 3, rarely in late childhood and adolescence, and almost never in adults.
Learning disabilities. Impaired thinking skills are common in children with NF1, but are usually mild. Often there is a specific learning disability, such as problem with reading or mathematics. Attention-deficit/hyperactivity disorder (ADHD) is also common.
Larger than average head size. Children with NF1 tend to have a larger than average head size due to increased brain volume.
Short stature. Children with NF1 often are below average in height.
Neurofibromatosis 2
Neurofibromatosis 2 (NF2) is not as common than NF1. Symptoms and signs of NF2 normally result from the evolution of benign, slow-growing tumors (acoustic neuromas) in the ears. Also called vestibular schwannomas, these tumors develop on the nerve which carries noise and balance data from the inner ear to the brain.
Signs and symptoms normally appear from the late adolescent and early adult years and may fluctuate in severity. Signs and symptoms may include:
- Gradual hearing loss
- Ringing in the ears
- Poor balance
- Headaches
Occasionally NF2 may result in the increase of schwannomas in different nerves of the human body, including the cranial, spinal, visual (optic) and peripheral nerves. Symptoms and signs of those schwannomas can comprise:
- Balance difficulties
- Facial drop
- Vision problems or the development of cataracts
- Numbness and weakness in the arms or legs
- Pain
Schwannomatosis
This uncommon sort of neurofibromatosis generally affects people after age 20. Schwannomatosis causes tumors to build up on skull (cranial), spinal and peripheral nerves — although maybe not on the nerve which carries noise and balance data from the inner ear to the brain. Since tumors do not generally grow on both hearing nerves, schwannomatosis does not induce the hearing loss experienced by people with NF2.
Schwannomatosis causes chronic pain, which may happen anywhere within your entire body. Other symptoms include:
- Numbness or weakness in various parts of your body
- Loss of muscle
Neurofibromatosis causes
Neurofibromatosis results from genetic defects (mutations) that either is passed on by a parent or happen spontaneously in conception. The particular genes involved depend on the Kind of neurofibromatosis:
NF1. The NF1 gene is located on chromosome 17. This gene normally produces a protein called neurofibromin which will help regulate cell development. The mutated gene induces a reduction of neurofibromin, allowing cells to grow uncontrolled.
NF2. The NF2 gene is located on chromosome 22 and produces a protein called merlin. The mutated gene causes a loss of merlin, leading to uncontrolled cell growth.
Schwannomatosis. So far, two genes are known to cause schwannomatosis.
