Neurofibromatosis

Neurofibromatosis is a term for diseases that mainly affect the skin and the nervous system. Find out more here!

Neurofibromatosis

neurofibromatosis is a collective term for hereditary diseases that belong to the phakomatosis - that is, they primarily affect the skin and the nervous system. Neurofibromatosis is a rare disease. Here you read everything important to the different forms.

ICD codes for this disease: ICD codes are internationally valid medical diagnosis codes. They are found e.g. in doctor's letters or on incapacity certificates. Q85C47D33

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neurofibromatosis

  • Neurofibromatosis: types

Neurofibromatosis: types

There are two main types of neurofibromatosis:

  • Neurofibromatosis type 1 (NF1, Recklinghausen disease)
  • Neurofibromatosis type 2 (NF2, central neurofibromatosis)

Both diseases are genetic and are associated with benign tumors in the nervous system. The more common Morbus Recklinghausen manifests itself mainly by special skin tumors (neurofibromas), which develop primarily in puberty. In addition, pigmentary disorders - for example, so-called cafรฉ au lait spots - and small, so-called Lisch nodules occur in the iris of the eye. In some cases, changes to the skeleton or a tumor on the optic nerve arise.

In the case of neurofibromatosis type 2, on the other hand, the symptoms of the skin are usually absent, so that the disease goes unnoticed for a longer time. One-sided or bilateral tumors often develop in the region of the auditory and equilibrium nerves (acoustic neurinomas). Other nerves in the brain and spinal cord may also be affected. The diagnosis is usually made in this disease only when the tumors, hearing problems, balance problems and other neurological complaints occur.

Both types of neurofibromatosis are inherited as an autosomal dominant, ie independent of the sex chromosomes. The change in the genetic material (mutation), however, takes place on different genes. Also different in their severity are Recklinghausen disease and Neurofibromatosis type 2. Physicians therefore regard them as separate clinical pictures.

Neurofibromatosis

FAQ - 💬

❓ What is the main cause of neurofibromatosis?

👉 Neurofibromatosis is caused by genetic defects (mutations) that either are passed on by a parent or occur spontaneously at conception. The specific genes involved depend on the type of neurofibromatosis: NF1 . The NF1 gene is located on chromosome 17.

❓ What is the life expectancy of someone with neurofibromatosis?

👉 If there are no complications, the life expectancy of people with NF is almost normal. With the right education, people with NF can live a normal life. Although mental impairment is generally mild, NF1 is a known cause of attention deficit hyperactivity disorder.

❓ Can neurofibromatosis be cured?

👉 There isn't a cure for neurofibromatosis, but signs and symptoms can be managed. Generally, the sooner someone is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

❓ At what age do neurofibromas appear?

👉 They can be present at birth or may not become noticeable for many years. Although some cutaneous neurofibromas arise in childhood, most start appearing during or after the teenage years. Freckling usually appears by 3 to 5 years of age. Freckles are similar in appearance to cafรฉ-au-lait spots but are smaller in size.

❓ Who is most likely to get neurofibromatosis?

👉 The only true risk factor for developing neurofibromatosis is having a parent who also has the condition. In nearly half of all cases of type 1 and type 2 neurofibromatosis, and in around 15 percent of schwannomatosis cases, the condition is passed down from parent to child.

❓ Does neurofibromatosis run in families?

👉 It can affect any family. Around 50 percent of all children with neurofibromatosis have inherited it from a parent โ€“ the other half has it due to a new, sporadic change in the NF1 gene. Some symptoms of NF1 are age-dependent.

❓ Where is neurofibromatosis most common?

👉 Cafรฉ-au-lait spots are most common on the chest, back, pelvis, elbows and knees. These spots may exist at birth or appear during infancy. Between ages 10 and 15, flesh-colored growths of different sizes and shapes may begin to appear on the skin.

❓ Can neurofibromas become cancerous?

👉 Symptoms are often mild or absent. If the tumor presses against nerves or grows within them, you may experience pain or numbness in the affected area. A neurofibroma usually isn't cancer. Rarely, it can become cancer.

❓ Are you born with neurofibromatosis?

👉 Symptoms of neurofibromatosis type 1 NF1 is a condition you're born with, although some symptoms develop gradually over many years. The severity of the condition can vary considerably from person to person.

❓ What can be mistaken for neurofibromatosis?

👉 Legius syndrome also is called a neurofibromatosis 1-like syndrome because its symptoms are similar to NF1. Individuals with Legius syndrome have skin problems including brown birthmarks, called cafe-au-lait spots, and freckling, as well as mild learning problems and a larger head.

❓ How do you test for neurofibromatosis?

👉 A blood test is available for genetic testing to see whether a mutation in the neurofibromatosis type 1 gene is present. A diagnosis of neurofibromatosis type 1 is still possible in people who don't have an identifiable mutation. Testing can now also be performed for SPRED1.

❓ What is neurofibromatosis (NF)?

👉 From Wikipedia, the free encyclopedia Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis.

❓ What are the signs and symptoms of neurofibromatosis type 1?

👉 Neurofibromatosis type 1 in early life may cause learning and behavior problems โ€“ about 60% of children who have NF1 have mild difficulty in school. Signs the individual might have are as follows: People with neurofibromatosis type 2 can exhibit the same type of skin symptoms as type 1, but not necessarily in every case.

❓ What is neurofibromatosis type 2?

👉 In this Article. Neurofibromatoses are genetic disorders of the nervous system. Mainly, these disorders affect the growth and development of nerve cell tissue. The disorders are known as neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2). NF1 is the more common type of neurofibromatosis.

❓ What is the prevalence of neurofibromatosis?

👉 In the United States, about 1 in 3,500 people have NF1, 1 in 25,000 have NF2, and 1 in 40,000 have schwannomatosis. Males and females are affected equally often in all three conditions. In NF1, symptoms are often present at birth or develop before 10 years of age.


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