Summary about Disease
Neurofibromas are benign (non-cancerous) tumors that grow on nerves throughout the body. They are a hallmark of neurofibromatosis type 1 (NF1), a genetic disorder. However, localized neurofibromas can also occur in people without NF1. These tumors develop from Schwann cells, which support and insulate nerve fibers. While usually not life-threatening, they can cause pain, disfigurement, and neurological problems depending on their location and size.
Symptoms
Symptoms vary greatly depending on the location, size, and number of neurofibromas. Common symptoms include:
Skin neurofibromas: Soft, fleshy bumps under or on the skin. These can vary in size from tiny to large.
Plexiform neurofibromas: Growths involving multiple nerves, often causing significant swelling and pain. They can be located deep within the body.
Pain: May range from mild to severe, depending on nerve involvement.
Neurological problems: Numbness, tingling, weakness, or loss of function in affected areas.
Skeletal problems: Scoliosis (curvature of the spine) or bone deformities in some cases.
Vision problems: Due to tumors affecting the optic nerve.
Hearing problems: Due to tumors affecting the auditory nerve.
Causes
Neurofibromas are caused by the overgrowth of Schwann cells.
NF1-related: Neurofibromatosis type 1 is caused by a mutation in the NF1 gene, which provides instructions for making a protein called neurofibromin. Neurofibromin regulates cell growth, and a mutation in the NF1 gene leads to uncontrolled cell growth.
Sporadic neurofibromas: Localized neurofibromas can occur without any known genetic cause. These are not associated with NF1 and are thought to arise from spontaneous mutations.
Medicine Used
There is no cure for neurofibromas, and treatment focuses on managing symptoms and complications.
Pain relievers: Over-the-counter or prescription medications to manage pain.
Surgery: Removal of tumors that are causing significant pain, neurological problems, or cosmetic concerns.
Chemotherapy: May be used in rare cases where neurofibromas become cancerous (malignant peripheral nerve sheath tumors - MPNSTs).
MEK inhibitors: Certain MEK inhibitors (e.g., selumetinib) are approved for the treatment of plexiform neurofibromas in children with NF1, to shrink tumors and relieve symptoms.
Other targeted therapies: Ongoing research is exploring other targeted therapies to address the underlying genetic mutations and growth pathways involved in neurofibroma development.
Is Communicable
Neurofibromas are not communicable. They are not contagious and cannot be spread from person to person.
Precautions
Genetic counseling: If you have a family history of NF1, consider genetic counseling before starting a family.
Regular check-ups: If you have NF1 or neurofibromas, regular medical check-ups are important to monitor the growth of tumors and manage any complications.
Sun protection: Protect your skin from excessive sun exposure, as it may increase the risk of skin cancer in people with NF1.
Early intervention: Seek medical attention if you notice any new or changing lumps, pain, or neurological symptoms.
Management of Complications: Take precautions to manage potential complications, such as vision or hearing loss, bone problems, or learning disabilities.
How long does an outbreak last?
Neurofibromas are not an "outbreak" illness like a viral infection. They are tumors that can grow over time. Their presence is usually chronic, meaning long-lasting. The growth rate and lifespan of neurofibromas vary widely. Some may remain stable for years, while others may grow more rapidly.
How is it diagnosed?
Diagnosis typically involves:
Physical exam: A doctor will examine the skin for neurofibromas and other signs of NF1.
Neurological exam: To assess nerve function and identify any neurological deficits.
Imaging studies: MRI or CT scans to visualize tumors and assess their size and location.
Genetic testing: To confirm a diagnosis of NF1.
Biopsy: A sample of tissue may be taken for examination under a microscope to confirm the diagnosis of a neurofibroma.
Eye exam: An ophthalmologist will check for Lisch nodules (small, benign growths on the iris) and other eye abnormalities associated with NF1.
Timeline of Symptoms
The timeline of symptoms varies widely depending on the type and location of neurofibromas and whether they are associated with NF1.
NF1: Symptoms often appear in childhood or early adulthood. Café-au-lait spots (flat, brown spots on the skin) are often the first sign, followed by the development of neurofibromas.
Localized neurofibromas: These can appear at any age.
Progression: The growth of neurofibromas can be slow or rapid, and the development of symptoms can be gradual or sudden. Monitoring by a doctor is necessary.
Important Considerations
Psychological impact: Neurofibromas can have a significant impact on a person's self-esteem and quality of life, especially if they are large or disfiguring. Counseling and support groups can be helpful.
Multidisciplinary care: Management of neurofibromas often requires a team of specialists, including neurologists, surgeons, oncologists, and geneticists.
Research: Ongoing research is aimed at developing new and more effective treatments for neurofibromas.
Early diagnosis and intervention: Early diagnosis and intervention are important to manage symptoms and prevent complications.
Potential for Malignancy: Although rare, neurofibromas can transform into cancerous tumors (malignant peripheral nerve sheath tumors - MPNSTs). Any sudden changes in size, pain, or neurological symptoms should be promptly evaluated by a doctor.