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Neurofibromatosis
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Neurofibromatosis

Neurofibromatosis is a genetic disorder of the nervous system that affects how nerve cells form and grow, leading to the development of tumors.

Overview

This condition can be inherited from parents or caused by a genetic mutation. While the resulting tumors are usually benign, they can sometimes become cancerous. Once an individual has the disorder, it can be passed on to their children.

Types of Neurofibromatosis

  • Type 1 (NF1): Usually starting in childhood (or sometimes present at birth), this type causes skin changes and deformed bones.
  • Type 2 (NF2): Symptoms often begin in the teen years and include hearing loss, ringing in the ears, and poor balance.
  • Schwannomatosis: The rarest type, characterized by intense pain.

Diagnosis and Treatment

Doctors diagnose the specific type based on symptoms, and genetic testing is used for NF1 and NF2. There is no cure for neurofibromatosis, but treatment can help control symptoms. Depending on the severity and type, treatment may include:

  • Surgery to remove tumors
  • Radiation therapy
  • Medicines

Frequently Asked Questions

Both NF1 and NF2 are autosomal dominant disorders, meaning that if one parent has the condition, each child has a 50 percent chance of inheriting the genetic mutation. However, approximately 50 percent of NF1 cases and 50 percent of NF2 cases result from new (de novo) mutations with no family history. Genetic counseling is strongly recommended for families to understand the specific risks and implications for future generations.
Children with NF1 often have bone abnormalities that make them more susceptible to fractures, so high-impact activities like contact sports may need to be modified. Additionally, because they may have learning disabilities or attention deficits, working with a pediatric specialist to create an individualized education plan (IEP) is crucial. Regular dermatological and ophthalmological checkups are also essential to monitor for optic pathway gliomas or skin changes.
Currently, there is no scientifically proven diet or specific nutritional supplement that can stop or reverse the growth of neurofibromas. However, maintaining a healthy weight and overall good health can make surgical interventions easier if they become necessary. Some research is exploring the use of certain medications like mTOR inhibitors, but these are typically reserved for severe cases and must be prescribed by a specialist.
While most neurofibromas are harmless, you should seek immediate medical attention if a lump grows rapidly, becomes hard or fixed in place, causes new or worsening pain, or changes color. Malignant transformation is rare but serious, and early detection through biopsy and imaging is critical for effective treatment.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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