Formerly known as Von Recklinghausen’s disease, neurofibromatosis (NF) is a genetic disorder that can affect several systems in the body including the brain, spinal chord, nerves and skin. There are two types of neurofibromatosis: type 1 and type 2; type 1 (NF1) being the most common.
In NF1, tumors grow on the body’s nerves or skin called neurofibromas. The neurofibromas are composed of hyperproliferating Schwann cells, fibroblasts, mast cells and peri-neural cells. They tend to manifest by the ages of ten to fifteen and can a cosmetic concern affecting almost 100% of NF1 patients. Aside form the way the patient will look, neurofibromas can be debilitating. As the patient grows, the tumors may grow along with them and be pressed against vital organs affecting different systems.
A sub-type of a neurofibroma tumor the patient may have is called a plexiform neurofibroma. About 30 to 50% of patients have them. This tumor covers more area and can cause major disfigurement. They are slow growing, usually starting at birth and have the possibility of becoming malignant by transforming to peripheral nerve sheath tumors, about 10-15% of the time.
Other symptoms can include café-au-lait pigmentation of the skin and freckles on the armpit and groin area, although these generally do not pose a threat to the patients. Curvature of the spine and bowing of the legs have also been reported. Patients may also have Lisch nodules, which are tan specks in the iris and they may also have tumors along the optic nerve. The patient may have speech issues, learning difficulties, seizures, cardiovascular malformations and hyperactivity.
There is no cure for NF. The best way to treat these patients is through medicines, as surgical resections may cause tumor recurrence.
This information is important for the dental hygienist to know so they may have an understanding of why a child or adult is acting a certain way, when it is known they are diagnosed with this disease. They may not want to sit for a teeth cleaning if they have attention deficit disorder. We might make sure they are being scheduled at the best time and shorter but more frequent appointments may be necessary. It is also possible, when doing our head and neck examination to find neurofibromas, café-au-lait pigmentation or even the Lisch nodules on the eye if we look closely enough. It could be us that sends the patient on a referral to their primary care physician or dermatologist that gets the ball rolling on a diagnosis. Because these tumors have the possibility of becoming malignant, it is important that we make sure our patient is seeing their doctor regularly.
These patients can have trouble with motor skill and memory, taking that into consideration it will affect oral health instructions. I think we will have the good judgment and knowledge to recommend the products and services that would best serve their needs.
Cooper, D.N., Spyk, S.L., Thomas, N. and Upadhyaya, M. (2011). Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis. Human Genomics, 5:623-690. doi:10.1186/1479-7364-5-6-623
Rowbotham, I. I., Pit-ten Cate, I. M., Sonuga-Barke, E. S., & Huijbregts, S. J. (2009). Cognitive control in adolescents with neurofibromatosis type 1. Neuropsychology, 23(1), 50-60. doi:10.1037/a0013927