Neurofibromatosis Type 1 (NF1)
Neurofibromatosis Type 1 (NF1): Symptoms, Diagnosis, and Treatment
Neurofibromatosis type 1 (NF1) is an inherited disorder that typically causes tumors to form on the nerves and other parts of the body. NF1 is caused by a genetic mutation, which is usually inherited from a parent. It’s estimated that up to 1 in 3,000 people worldwide have NF1. Symptoms of NF1 can range from small, light colored spots on the skin to tumors on nerves or other parts of the body.
Signs and Symptoms
Common signs and symptoms of NF1 include:
- Light brown spots on the skin (called “café-au-lait” spots)
- Freckles in the armpit or groin area
- Tumors on the nerves (called “neurofibromas”)
- Small bumps on the iris of the eye (called “Lisch nodules”)
- Bone deformities
- Learning disabilities
- Increased risk of tumors in other parts of the body (such as the brain)
Diagnosis
NF1 is usually diagnosed based on physical signs and symptoms. Other tests, such as a skin biopsy, genetic testing, or imaging tests (such as MRI or CT scans) may also be used to help diagnose NF1. A doctor or genetic counselor can help determine if NF1 is the right diagnosis.
Treatment
Treatment for NF1 is usually focused on managing symptoms, such as tumors or bone deformities. Surgery may be used to remove tumors that are causing problems. Medications, such as pain relievers, may also be used to manage symptom. Regular check-ups with a doctor are important to monitor progression of NF1 and ensure no new tumors are forming.
Prevention
Since NF1 is genetic, there is no way to prevent it. However, early diagnosis is important, as it can help manage symptoms and reduce the risk of serious complications. Parents should watch closely for signs or symptoms of NF1, and seek medical help if they think their child may have it.