Neurofibromatosis are hereditary diseases characterized by benign tumors of the skin and other tissues that accompany tumors in various parts of the nervous system. Along with harmless benign tumoral formations on the skin, tumors that can cause vision or hearing loss can also be observed in the brain’s years of vision or hearing. For this reason, it is a group of diseases that can cause serious neurological or structural dysfunctions. It has been shown that developmental disorders such as learning disability are more common in patients with neurofibromatosis than in normal individuals. However, while some patients live without any problems until the end of their lives, some patients can become a pathological condition that requires constant follow-up and treatment since childhood.

What is neurofibromatosis?

Neurofibromatosis are genetically transmitted diseases. Our body is made up of millions of cells. All these cells contain structures called chromosomes, and these chromosomes carry the information necessary for the structure of the cells in smaller units called genes. Changes in genes are called mutations. These mutations change the structure of the genes and cause diseases. Today, genetic mutations have been shown to be responsible for a wide range of diseases ranging from benign tumors to cancer, in many diseases. As the research continues, new information about the genes emerges every day.

Neurofibromatosis are also genetically transmitted diseases. NF is an autosomal dominant (dominant) transition disease. NF1 gene is tracked on chromosome 17, NF2 gene is tracked on chromosome 22. Autosomal dominant, that is, dominant transition means that if the individual’s mother or father has a mutation of this gene, the same disease will occur in the child who will be born. Since half of the chromosomes in humans are obtained from the mother and half from the father, the probability that the child of an individual who is sick is sick. However, half of the NF patients receive this gene from their mothers or fathers, while half develop this disease as a result of spontaneous (mutant) mutations.

What are the types of neurofibromatosis disease?

It is divided into 2 different classes, which are described as Type 1 and 2. Neurofibromatosis is also called Type 1 von Recklinghausen or peripheral neurofibromatosis. NF Type 1 has cafe au lait spots on the skin and neurofibromas under the skin all over the body. In addition, scoliosis in the spine, benign tumors in the eyes and brain can be seen. Nearly half of these patients can have mental problems related to learning.

In neurofibromatosis Type 2, bilateral acoustic neuroma is seen in addition to those seen in Type 1. These tumors, which can be called acoustic neurinoma or vestibular schwannomas, are tumors originating from the sheath of the nerve responsible for hearing and balance, which are the 7th and 8th head pairs in the head. Appearance on both sides, both on the right and on the left, is pathognomic for NF Type 2, i.e. diagnostic.

How often does neurofibromatosis occur?

NF 1 is tracked at one in 3500 births. NF 2 is found in 40000 births.

How is neurofibromatosis diagnosed?

There are established diagnostic criteria for the diagnosis of NF1. Having 2 of the criteria specified below is sufficient for diagnosis.

  • An individual with a diagnosis of NF1 in the family
  • There are 6 or more cafe au lait (milk coffee) spots on the skin
  • Freckling in the groin or armpit
  • Spots on the iris section of the eye
  • Skeletal system anomalies (curvature of the legs, scoliosis, etc.)
  • Optic nerve tumor
  • Neurofibromas (skin-sized chickpeas under the skin)
  • Widespread soft bumps on the skin called plexiform neurofibroma

The presence of bilateral acoustic neurinoma is sufficient for the diagnosis of NF 2.

Laboratory tests can also be performed for NF 1 and NF 2. Gene tests can be performed and the disease can be diagnosed with genetic tests before symptoms of the disease appear.

What are the symptoms of neurofibromatosis?

NF patients may present with skin lesions before very serious life-threatening symptoms appear. Milk coffee spots, which are commonly seen on the skin, can lead to diagnosis by noticing the neurofibromas located under the skin. In some cases, milk coffee stains are quite faint and may not be noticed if not taken very careful.

Neurofibromas are the most common tumors, especially in NF 1. These benign tumors can be located on the skin surface or under the skin. Neurofibromas consist of nerve and connective tissue. These tumors can occur at any age, often in puberty. The number of neurofibromas varies among patients. The presence of a single neurofibroma does not suggest a diagnosis of NF, but the presence of a large number of neurofibroma should bring to mind the presence of Neurofibromatosis.

What are the causes of neurofibromatosis?

Neurofibromatosis is a genetically transmitted disease. Bacterial or viral agents and toxic substances have no place in its formation . There is no evidence of nutritional habits involved in the development of neurofibromatosis. There are some facts that individuals with neurofibromatosis should consider in the stages of getting married and having children. Doctors who follow these patients also have an obligation to tell their patients about the situations that may arise in their children.

What are the neurofibromatosis treatment methods?

Patients diagnosed with NF1 should be evaluated in terms of height, weight, head circumference, normal sexual development assessment, symptoms of learning disability, and behavioral problems. In these children, all skin should be carefully evaluated in terms of both cafe au lait spots and neurofibromas. It is important whether they grow in the follow-up of these tumors. It should be borne in mind that growth and deformation may be indicative of malignant degeneration. Children diagnosed early should be closely monitored for hypertension and scoliosis development. Since neurofibromatosis cases may have tumors in the visual pathways and auditory nerve, these children should be closely monitored in terms of vision and hearing functions. In cases where other problems are suspected, blood tests and advanced imaging methods should be applied. Children with NF disease who have no symptoms should undergo a doctor’s check every 6 months or 12 months.

Adult patients with neurofibromatosis should be followed at regular intervals in terms of growth in skin lesions, scoliosis, hypertension, vision and hearing functions at certain intervals. In addition, it should always be taken into consideration that new lesions may occur in addition to the existing lesions in these patients. In cases where there is no need for closer follow-up, adult neurofibromatosis should be followed up at one-year intervals.

Despite many advances in modern medicine today, a definitive treatment method for Neurofibromatosis has not been found. In some cases, surgical removal of tumoral formations or radiotherapy can be applied for reduction. Removal of tumors at some tender points may lead to the development of additional neurological deficits in patients. In such patients, profit and loss calculations should be examined in detail before deciding to apply surgery. Likewise, in cases where radiation therapy is on the agenda, making the right decisions between the benefits and harms of radiation is an issue that should be discussed and decided between patients’ relatives, patients and doctors.

As a result, although it is a rare disease, both types of neurofibromatosis are highly important in terms of social health, as it is an autosomal dominant disease, ie, a dominant transition disease. It is important both to follow-up and treat properly and to provide medical and psychological support to families with this disease.