The dominant autosomal genetic disorder that causes the growth of tumours or neurofibromas on the nerve tissues is known as neurofibromatosis. These neurofibromas are soft in texture and are found throughout the body. These tumours are generally non-cancerous. The non-nerve tissues like that of the skin and the bones are also affected sometimes as a result of this neuraofibromatosis. This is a rare disease and both sexes are affected equally.

German pathologist Friedrich Daniel von Recklinghausen was the first to discover neurofibromatosis in the year 1882.

Types of Neurofibromatosis

Neurofibromatosis is a rare disease that is generally seen in its common form. But in some cases, it can be seen in some rare forms too. They are:

Neurofibromatosis types I or the “Von Rec klinghausen disease”. The occurrence is one among 3500 cases.

Neurofibromatosis type II or the “MISME Syndrome”. This is as rare as one among 40,000 cases.

Schwannomatosis is genetically and clinically different from neurofibromatosis types I and II. This also occurs in one among 40,000 patients.

Apart from these also there are five more rare forms of neurofibromatosis.

What are the Symptoms of Neurofibromatosis

Neurofibromatosis Type 1

Presence of birthmark that is coffee-colored, commonly termed as “cafe-au-lait” spot. These spots would be at least six in number from the time of birth or they tend to develop within five years of age.

Formation of lumps under the skin is seen after puberty. These lumps grow in size.

High blood pressure also is common among the victims.

Spinal curvature of the afflicted person is often abnormal.

Speech problem as well as auditory problem is common occurrence.

Learning disability

Epilepsy

Neurofibromatosis Type 2

Formation of benign tumours internally

Hearing disability is also a common occurrence.

Tumours down the spine as well as brain tumours are a common occurrence in this malaise.

Cataracts

Skin tumours

Facial paralysis

Causes of Neurofibromatosis

The factors leading to neurofibromatosis are as follows:

Genetic factors—Neurofibromatosis Type 1 is caused by disorder in chromosome 17, and that in Type 2 is caused by chromosome 22.

Heredity—Neurofibromatosis can be in the family.

Regardless of sex, age, or ethnicity, neurofibromatosis can occur to anyone. But this is a rare disease, having a rate of one among 2500 individuals.

Diagnosis of Neurofibromatosis

The form of diagnosis of neurofibromatosis is as follows:

Lab Studies of mutation analysis using better and more sophisticated machines.

Imaging Studies, like the MRI scan of the brain and the spinal chord

Wood lamp examination to examine the spots in patients with pale skin

Slit lamp examination for children to examine the Lisch nodules.

Treatment for Neurofibromatosis

In most of the cases on neurofibromatosis, the tumours are benign, and thus do not need any special treatment that are generally recommended for malignant or cancerous tumors. But surgery is sometimes needed to remove the tumours. Other general treatment procedures are as follows that can be rendered as and when needed in accordance with the symptoms and complications:

Surgery to remove tumours

Treatment for epilepsy, if it occurs

Regular testing of vision and auditory abilities

Speech therapy

Special education fro students with learning disability

Counseling and genetic screening for families that have a history of neurofibromatosis

Biopsy of the tumours to make sure that they are non-cancerous

Constant monitoring of the tumours to detect growth changes and pain

Due to the wide range of complications involved in neurofibromatosis, a wide range of medical consultants are also needed for proper treatment of this disease. They are

Orthopedic consultants

Surgeons

Oncologists, if the growth is found to be malignant after biopsy

Psychiatrists for genetic counselling.