Neurofibromatosis: Should we be worry of this disease?

Neurofibromatosis can be termed as a group of three conditions in which tumors grow in the nervous system of the body. It is an incurable genetic disorder of the nervous system which mainly impacts the development of nerve cell tissues. These tumors know as Neurofibroma grow on the nerves and can lead to a variety of other problems as well. Comparatively, these tumors are harmless but it may sometimes compress the nerves and tissues leading to heavy pain and further problems. So, should we worry about Neurofibromatosis? Let us check out.

Neurofibromatosis (Nf) is the most common type of neurological disorder which has a link to the person’s genetic availability. The development of the nerves or say mutation basically means that the nerve tissue is not properly controlled. In the United States, about 1 in 3500 people have NF1 and 1 in every 25000 people have NF2 and male and female have the same rate of occurrence of this disease.

Types of Neurofibromatosis

There can be three possible types of Neurofibromatosis like – Neurofibromatosis type 1 (NF1), Neurofibromatosis Type 2 (NF2) and Schwannomatosis. These are not interrelated and are caused due to a genetic mutation which is often inherited between 30 to 50 percent of the cases arising out of the altered gene. If the person has the altered gene, it can be passed on the future generation. The tumors can involve supporting cells in the nervous system rather than the neurons. In the NF1, the tumors are Neurofibromas (tumors of peripheral nerves), while in the NF2 and Schwannomatosis, the tumors of Schwann Cells are common. Most people with NF1 have a normal life expectancy, while the condition may worsen with time. NF2, on the other hand, increases the risk of life if not dealt early on.

Signs and Symptoms of Neurofibromatosis

In the NF1, the symptoms might include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves and scoliosis. Some of the symptoms of the Neurofibromatosis are as follows:

  • Learning and behavior problems

  • Six or more light brown dermatological spots

  • At least two growths on the eye’s iris

  • Abnormal growth of the spine (Scoliosis)

  • At least two Lisch nodules or small brown spots

  • Freckling in the Armpit

  • Lesions in the bones

  • Family history of NF1

In the NF2, the patients might suffer from hearing loss, cataract at a young age, balance problems, flesh-colored skin flaps and muscle flaps as well as muscle wasting. The tumors are generally non-cancerous.

What are the causes of Neurofibromatosis?

Neurofibromatosis is an autosomal disorder. This means that only one copy of the affected gene is needed for the disorder to develop in complete form. If one of the parents have some form of Neurofibromatosis, the children are supposed to have the disease by 50% probability. Sometimes, it can develop from as soon as the birth without the parents having the disorder. While these tumors are basically non-cancerous and non-harmful in nature, it might sometimes press against the nerves and be very painful.

Diagnosis and Treatment of Neurofibromatosis

The Neurofibromatosis is considered as RASopathies and as members of the Neurocutaneous syndromes. The diagnosis of this disease can be done through the following ways:

  • Radiograph

  • Magnetic Resonance Imaging (MRI) or Computed Tomography (CT) Scan

  • Electroencephalography (EEG)

  • Slit lamp examination

  • Genetic Testing

  • Histology

The treatment for Neurofibromatosis may include a surgical removal of the tumor. However, the risk involved according to the place of occurrences of the tumor and its removal must first be assessed. With regard to OPG (Optic Pathway Gliomas), the preferred treatment is chemotherapy.

How does the Neurofibromatosis impact the body?

It can affect all neural crest cells including the Schwann cells, melanocytes, and endoneurial fibroblasts. It can sometimes cause immense pain in the bones. If not catered early, the disorder is likely to spread throughout the body leading to more such tumors in the body and unusual skin pigmentation. There could be bumps under the skin, colored spots, bone problems, pressure on spinal nerve roots as well. It can also lead to behavioral changes in the person as well.

Should we worry?

Definitely. The patients diagnosed with NF1 should start medication as soon as possible. There have not been enough medications in the field but they should consider seeing a Surgeon in order to take the tumor out of the place for better relief. If left to the condition, the tumors are likely to grow and cause the problem to the adjoining tissues and impact their functioning as well. The behavioral changes also press for an early surgical treatment if it is viewed as the last resort by your Chest Physician. 

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