Neurofibromatosis Type 1
Neurofibromatosis 1 (NF1) is also known as Von Recklinghausen NF and occurs in 1:3,000 births. NF1 is characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin as well as enlargement and/or deformation of bones and scoliosis of the spine.
Approximately 50% of people with NF1 have learning disabilities. The severity of each case can vary significantly, ranging from very mild to extremely severe – as such, it is very difficult to predict what lies ahead for each patient. Occasionally, tumors may form on the brain, cranial nerves or spinal cord. Fortunately, most tumors associated with NF1 are benign.
Signs of NF1 are often discernible from a very young age, with cafe-au-lait spots generally being visible at birth. Nearly 60% of those affected by NF1 have mild cases, so it is beneficial that there are lab tests available to confirm diagnosis.
Do I have NF1?
This is a question best answered by a physician knowledgeable about NF, however, as a general guide, doctors will look for two or more of the following criteria:
- Family history of NF1
- Six or more cafe-au-lait spots
- Two or more neurofibromas on the skin (pea sized bumps) or one or more plexiform neurofibromas (larger, swollen area on the skin)
- Freckling under the arms or in the groin area
- Pigmented bumps on the eye’s iris (Lisch Nodules)
- Skeletal abnormalities (ie. bowing of the legs or thinning of shin bone)
- Tumor present on the optic nerves that may effect vision
Possible Complications of NF1
For many people with NF1 (approximately 60%), the symptoms are mild and are mostly superficial. Another 20% will be faced with correctable problems, and the remaining 20% will see persistent complications. Most severe cases are evident by early adolescence and complications can include the following:
- Disfigurement: NF1 can result in disfigurement in a number of ways, most commonly, neurofibromas can develop on the face or exposed areas if the arms and legs, causing discomfort for some people. Additionally, larger plexiform neurofibromas can develop near the eye, or affect growth on one side of the face. When scoliosis is severe, it too can have an impact on one’s appearance. For those who are distressed by these disfigurements can find support from meeting and online discussion groups, and often plastic surgery can be an option for removal of disfiguring tumors.
- Scoliosis: Scoliosis is a common symptom of NF1, usually appearing in early childhood. Children with scoliosis will need regular monitoring t determine whether corrective action is necessary. Most cases are mild and no action is necessary, moderate cases may be curtailed by use of a brace, and severe cases require corrective surgery.
- Learning Disabilities: Often recognized when children begin school, learning disabilities are more common in children with NF1 than in other children. These disability come by way of problems reading, writing, and using numbers and can be associated with hyper activity. Children with learning disabilities can benefit from evaluation and support from child psychologists and/or neurologists, and referral is often possible through schools.
- Optic Gliomas: Optic gliomas are tumors on the optic nerve, which controls vision. Children with NF1 should have routine eye exams to monitor for optic gliomas, which are fortunately, uncommon. Signs of an optic glioma include poor or failing vision or bulging of the eye, and are usually found in childhood. Treatment options include surgery and radiation therapy.
- Congenital Defects of Bone: Most bone defects are evident at birth and most are uncommon. Defects can occur in any bone, but are most commonly found in the skull and limbs.
- Hypertension: Hypertension or, high blood pressure when caused by NF1 is most often due to renal artery stenosis (blockage of the artery to the kidney) and pheochromocytoma (tumor of the adrenal gland) and are treatable.
What to watch for
In children/adolescents with NF1, it’s important to monitor for:
- Bowing of bones (commonly in the legs)
- Developmental milestones/school progress
- Annual eye exam by an experienced opthamologist (monitor for optic gliomas)
- Regular blood pressure tests
- Check for back curvature (scoliosis)
- Monitor height, weight and sexual development
- Discuss self-esteem, help navigate their relationships and answering questions of their peers
- Keep a close eye on any neurofibromas, report changes to your doctor
In Adults, it’s important to monitor the following:
- Any changes in tumors, be aware of signs of cancer
- Monitor blood pressure
- The appearance of headaches, weakness, pain or changes in sensation. Report any changes to your neurologist.
© 2014 Neurofibromatosis Society of Nova Scotia. All rights reserved.