Neurofibromatosis is a genetic disorder that involves the development of tumors on the nerve tissue. It can form anywhere in the nervous system such as the nerves, spinal cord, and brain. The tumors can be either noncancerous (benign) or cancerous (malignant). The disease is generally diagnosed in early adulthood or childhood. The complications of the disease include learning impairment, loss of hearing, problems in blood vessels and heart, severe pain and loss of vision. A neurosurgeon will help you through the process of diagnosis and treatment. Consult with the best neurosurgeons online using the mfine app.
There are three kinds of neurofibromatosis and each has its own symptoms.
1.Neurofibromatosis 1 (NF 1): Neurofibromatosis 1 generally appears during childhood or right after birth and symptoms are present at birth or by the age of 10 years. Few of the top symptoms are as follows:
- Light, flat brown spots called ‘café au lait’ spots on the skin.
- Freckling in groin or armpits region
- Tiny bumps are known as ‘Lisch nodules’ in the iris of the eyes.
- Soft bumps are known as ‘neurofibromas’ under the skin.’
- Bone deformities
- A tumor on optic nerve known as optic glioma
- Learning disabilities
2.Neurofibromatosis 2 (NF 2): Neurofibromatosis 2 is less common compared to NF 1. NF 2 develops from the slow-growing, benign tumors known as the ‘acoustic neuromas’ in both the ears. NF 2 is called ‘vestibular schwannomas’ and grows on nerves that carry balance information and sound from the inner ear to the brain. Symptoms appear in late teens or early adulthood and include the following:
3.Schwannomas: NF2 leads to the development of Schwannomas. It is a rare kind of neurofibromatosis that affects people in their 20s. In this disease, tumors develop in the peripheral nerves, spinal and cranial nerves and the symptoms include:
- Weakness and numbness in the legs or arms
- Difficulty in balancing
- Problems in vision and development of cataracts
- Weakness or numbness in the different parts of the body
- Muscle loss
Neurofibromatosis is brought about by genetic defects or mutations that occur during conception spontaneously. The involvement of genes is based on the kind of neurofibromatosis.
- NF1: The gene of NF1 is situated on chromosome 17 and produces the neurofibromin protein which helps in the regulation of cell growth.
- NF2: The gene of NF2 is located on chromosome 22 and produces the merlin protein. The ‘mutated gene’ brings about the loss of the merlin protein and uncontrolled growth of the cell.
- Schwannomatosis: Two genes bring about the condition of schwannomatosis. Reach out to the best neurosurgeons through mfine app.
Legius Syndrome and Neurofibromatosis
Legius Syndrome is a disorder similar to Neurofibromatosis 1. The disorder is characterized by skin problems such as café-au-lait spots, freckles, and mild learning problems.
Diagnosis of Neurofibromatosis
At mfine, get in touch with the neurofibromatosis specialist and top neurosurgeons, who would confirm the diagnosis of NF 1 by carrying out a physical examination.
Neurofibromatosis results due to a genetic mutation in specific genes. Offsprings inherit the gene from their parents but the rest occur during the early phases of development.
The treatment for neurofibromatosis is surgery. Get in touch with adept general surgeons for removing the acoustic neuromas which causes the problem of hearing loss.
At mfine, find top neurosurgeons and neurofibromatosis doctors near me and get the best of treatment.