What are facts about neurofibromatosis?

Neurofibromatosis (NF) is a group of genetic disorders that are characterized by the growth of tumors along the nerves. The most common type of neurofibromatosis is neurofibromatosis type 1 (NF1), which affects about 1 in 3,000 people. There are two other types of neurofibromatosis: neurofibromatosis type 2 (NF2) and schwannomatosis.

Here are some facts about neurofibromatosis:

* NF is an inherited disorder, which means that it is passed down from parents to children.

* NF1 is caused by a mutation in the NF1 gene, which is located on chromosome 17.

* NF2 is caused by a mutation in the NF2 gene, which is located on chromosome 22.

* Schwannomatosis is caused by a mutation in the SMARCB1 gene, which is located on chromosome 22.

* The symptoms of NF can vary depending on the type of NF and the individual.

* Some common symptoms of NF1 include:

* Cafe-au-lait spots, which are light brown patches of skin

* Freckling in the armpits or groin

* Lisch nodules, which are small bumps on the iris of the eye

* Neurofibromas, which are tumors that grow along the nerves

* Optic gliomas, which are tumors that grow on the optic nerve

* Some common symptoms of NF2 include:

* Bilateral vestibular schwannomas, which are tumors that grow on the nerves that connect the inner ear to the brain

* Schwannomas, which are tumors that grow along the nerves

* Meningiomas, which are tumors that grow on the membranes that cover the brain and spinal cord

* Ependymomas, which are tumors that grow in the brain and spinal cord

* There is no cure for NF, but the symptoms can be managed. Treatment may include surgery, radiation therapy, chemotherapy, and medication.

* NF can affect people of all ages, but it is most commonly diagnosed in childhood.

* NF is a lifelong condition, but with proper management, most people with NF can live full and active lives.

If you or a loved one has NF, it is important to see a doctor regularly to monitor the condition and manage the symptoms.