Summary about Disease
Neurofibromatosis (NF) is a group of genetic disorders that cause tumors to form on nerves throughout the body. These tumors are usually benign (non-cancerous), but in some cases can become malignant. The three main types of NF are Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2), and Schwannomatosis. Each type has distinct genetic causes and symptoms. NF1 is the most common type.
Symptoms
Symptoms vary widely depending on the type of NF and the individual.
NF1: Café-au-lait spots (flat, light brown spots on the skin), neurofibromas (tumors on or under the skin), Lisch nodules (tiny growths on the iris of the eye), bone deformities, learning disabilities, larger head size.
NF2: Hearing loss, tinnitus (ringing in the ears), balance problems, schwannomas (tumors on the nerve responsible for hearing and balance), meningiomas (tumors on the membranes surrounding the brain and spinal cord), cataracts.
Schwannomatosis: Chronic pain, numbness or tingling, muscle weakness, schwannomas (tumors on the nerves, but not on the hearing nerve like in NF2).
Causes
NF is caused by genetic mutations. These mutations can be inherited from a parent (about 50% of cases) or occur spontaneously (de novo mutation) in the affected individual. The specific genes involved differ depending on the type of NF:
NF1: Mutation in the NF1 gene.
NF2: Mutation in the NF2 gene.
Schwannomatosis: Mutations in the SMARCB1 or *LZTR1* genes in some cases; in others, the genetic cause is unknown.
Medicine Used
There is no cure for NF, and treatment focuses on managing symptoms and complications.
Pain relievers: For pain management.
Surgery: To remove tumors that are causing pain, compressing nerves, or are cancerous.
Chemotherapy/Radiation: For malignant tumors.
MEK inhibitors (e.g., selumetinib): May be used to treat plexiform neurofibromas in NF1.
Other medications: May be used to treat specific symptoms, such as seizures or high blood pressure.
Is Communicable
No. Neurofibromatosis is not contagious. It is a genetic disorder and cannot be spread from person to person.
Precautions
Since NF is a genetic condition, prevention is not possible. However, genetic counseling is recommended for individuals with NF who are planning to have children. Regular monitoring and management of symptoms are important for those with the condition.
How long does an outbreak last?
NF isn't an illness that comes and goes like an outbreak. The presence of Neurofibromatosis is life-long. Symptoms can progressively change over time.
How is it diagnosed?
Diagnosis is based on clinical criteria and genetic testing.
NF1: Diagnosis typically involves the presence of two or more of the following: six or more café-au-lait spots, two or more neurofibromas, freckling in the armpits or groin, Lisch nodules, a bone abnormality, or a first-degree relative with NF1. Genetic testing can confirm the diagnosis.
NF2: Diagnosis typically involves the presence of bilateral vestibular schwannomas (tumors on the hearing nerve in both ears), or a family history of NF2 plus either a unilateral vestibular schwannoma or two of the following: meningioma, glioma, schwannoma, neurofibroma, or cataract. Genetic testing can confirm the diagnosis.
Schwannomatosis: Diagnosis requires the presence of two or more schwannomas and the exclusion of vestibular schwannomas. Genetic testing can identify SMARCB1 or *LZTR1* mutations in some cases.
Imaging: MRI or CT scans are used to identify tumors.
Timeline of Symptoms
The timeline of symptoms varies greatly. Some symptoms may be present at birth or develop in early childhood, while others may not appear until adulthood.
NF1: Café-au-lait spots are often present at birth or appear in early childhood. Neurofibromas typically develop later in childhood or adolescence.
NF2: Symptoms often appear in adolescence or early adulthood, with hearing loss being a common initial symptom.
Schwannomatosis: Symptoms typically develop in adulthood, with chronic pain being a common initial symptom.
Important Considerations
Genetic Counseling: Individuals with NF should consider genetic counseling before starting a family.
Regular Monitoring: Regular check-ups with a healthcare provider are important to monitor for complications and manage symptoms.
Multidisciplinary Care: Management of NF often requires a team of specialists, including neurologists, dermatologists, ophthalmologists, and oncologists.
Psychosocial Support: NF can have a significant impact on quality of life, and psychosocial support is important.
Research: Ongoing research is focused on developing new treatments and therapies for NF.