What Is Neurofibromatosis

Neurofibromatosis is an inherited disorder that affects the brain and spinal cord. The main affects are developed in the cell tissues of the nerves, which cause tumors to develop on the nerves and may also cause other abnormalities. In the majority of cases, the tumors are harmless however; they can compress nerves or cause damage as well as in rare cases become cancerous.

The disorder affects all neural crest cells, which include malanocytes, endoneurial fibroblasts, and Schwann cells. The elements from the cells reproduce in excess through the entire body, which brings on the formation of tumors along with the abnormal function of melanocytes, which causes skin pigmentation. The melanocytes are the cells that are responsible for creating the pigmentation of the skin, eye, and hair. These tumors can cause knots under the skin, problems with the bones, discolored spots, pressure on the nerve roots on the spine, and neurological issues.

In some cases, neurofibromatosis is very painful and in some individuals be the cause of behavioral problems, hearing loss, learning disabilities, and vision loss.

Neurofibromatosis can affect any person whether male or female and across all ethnic groups.

Types of Neurofibromatosis

At this time, three types of Neurofibromatosis have been discovered which include Neurofibromatosis type 1 (Nf1), Neurofibromatosis type 2 (Nf2), and Schwannomatosis.

This genetic neurological disorder is the most common that is caused by one gene. Nf1 affects around 1 in every 2,500 babies as reported by the National Health Service in the United Kingdom. Around 1 in 35,000 individuals in the United Kingdom have Nf2. As reported by the Centers for Disease Control and Prevention in the United States of America, 1 in 4,000 Americans are diagnosed with the Nf1 while children and 1 in 50,000 are diagnosed with Nf2 later in life.

Neurofibromatosis type 1

Neurofibromatosis type 1

Neurofibromatosis type 1 also known as peripheral neurofibromatosis, von Recklinghausen NF, and von Recklinghausen’s disease is sent on chromosome 17 and brings on mutation of the Nf1 gene.

With Neurofibromatosis type 1, not long after birth, several birthmarks begin to appear in various areas of the body. In later years, the child will begin to have lesions or tumors appear on and under the skin. The amount of lesions can be a few up to thousands.

Neurofibromatosis type 2

Neurofibromatosis type 2 also known as bilateral neurofibromatosis is also a mutation but of the Nf2 gene which is sent on chromosome 33. Neurofibromatosis type 2 normally appears during the late teens or early twenties.

With bilateral neurofibromatosis, the tumors form on the nervous system normally within the skull. Other tumors can develop on the spinal cord, which are known as intraspinal tumors. The most common are those that develop on the vesitbulocochlear nerve, which is responsible for hearing.

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Schwannomatosis was recently discovered and is a rare form of Neurofibromatosis. As reported by the National Institute of Neurological Disorders and Stroke in the United States of America around 15% of the inherited forms of Neurofibromatosis are Schwannomatosis.

With Schwannomatosis, tumors develop in the tissue found around a nerve at any location in the body except in the area of the vestibulocochlear. The tumors associated with Schwannomatosis causes tingling, numbness, weakness, and pain in the fingers and toes.

Neurofibromatosis Causes

All types of neurofibromatosis are caused by a gene that is defective which is speculated to be inherited from one of the parents or it may change or mutant for an unknown reason. The mutated gene that causes Nf1 is found on chromosome 17 and for Nf2 the gene is found on chromosome 33.

The inherited neurofibromatosis can be passed from one or both parents. The mutation on the other hand may occur without any family history of the condition. In the majority of cases, the mutation happens prior to the sperm fertilizing the egg.

The condition as with Nf1 will be seen by widespread birthmarks shortly after birth, while Nf2 may not be seen until the person reaches their teenage years or even in their early 20’s.

The cause of Schwannomatosis has not been published at this time since it was recently discovered; more research is needed to determine the cause. However, since all cases of Neurofibromatosis are due to a mutated gene, then the cause will still be with one gene.


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