Neurofibromatosis 1

Neurofibromatosis 1, also known as neurofibromatosis type 1 and NF-1, is a genetic disorder that begins at birth and causes tumors to grow in the nervous system. It used to be known as von Recklinghausen's disease. Of the three identified types of neurofibromatosis, it is the most commonly diagnosed, occurring in approximately 1 in every 4,000-5,000 births.

The disease can either be passed along genetically from parent to child, or it can develop from a genetic mutation.

Neurofibromatosis 1: Diagnostic features

There are six identified diagnostic features of NF-1. The existence of one or more of them does not signify NF-1 per se, nor does every person with NF-1 exhibit every feature:

1. Since NF-1 is closely associated with the development of several brown patches on the skin, known as café au lait patches, NF-1 can usually be diagnosed clinically in children by the age of three and generally no later than the age of nine on account of these birthmarks. Although in and of themselves they don't indicate NF-1, several café au lait patches 5 mm in size or larger in young children can be indicative of the disease. It should be noted that these patches do not cause health or medical issues, even though they may seem to grow in size over time.
2. The same is true for another diagnostic feature of the disease, that of skin-fold freckling; in this case, freckles appear in the groin (inguinal) or armpits (axillary).
3. Another feature are the so-called neurofibromas, which are small, painless tumors that appear on the skin.
4. Iris Lisch nodules are small, pigmented nodes that appear on the surface of the iris.
5. Sometimes, NF-1 leads to what is known as an Optic pathway glioma, which is a tumor that develops on or near the optic nerve. It develops from a brain cell that comes from the brain's supportive tissue, called astrocytes. These gliomas make up about 5 percent of all diagnosed brain tumors in children.
6. NF-1 sometimes causes Bony dysplasia, which means deformities in bone growth. In NF-1 this is most often manifested as scoliosis of the spine, bowing of the tibia (shin bone), or a difference in the growth of one limb versus the other.

Neurofibromatosis 1: Treatment

While the tumors that develop in NF-1 often do not cause any major health issues, they can sometimes become malignant (cancerous), in which case treatment options would involve standard anti-cancer modalities. Patients can also experience severe pain resulting from the growth of the tumors on the nerve endings, or from bony dysplasia.

Treatments include surgery, radiotherapy, chemotherapy, and psychosocial counseling. There is no cure for NF-1, so these treatments are aimed at reducing the severity of the patients' symptoms.

Neurofibromatosis 1: Secondary health problems

Cognitive impairment, orthopedic issues, cancerous tumors, and neurological disorders are issues faced by patients with NF-1. However, because neurofibromas can disrupt blood flow, vascular diseases are not uncommon, and are often the cause of premature death in patients with NF-1. Neurofibromas that develop in the brain can lead to cerebral hemorrhage, while similarly another major cause of premature death is cardiovascular disease.

Sources

• Ferner RE. Neurofibromatosis 1. European Journal of Human Genetics (2007) 15, 131–138.
• Children's Hospital Boston, Optic pathway glioma.
• Hospital for Special Surgery, Neurofibromatosis and Its Complications
• American Academy of Orthopaedic Surgeons, Neurofibromatosis: Treatment
• Rasmussen SA et al. Mortality in neurofibromatosis 1: an analysis using U.S. death certificates. Am J Hum Genet. 2001 May;68(5):1110-8.

The information provided on CancerTreatment.net is designed to support, not replace, the relationship that exists between a patient/site visitor and his/her health professional. This information is solely for informational purposes and does not constitute the practice of medicine. We encourage all visitors to see a licensed physician or nutritionist if they have any concerns regarding health issues related to diet, personal image and any other topics discussed on this site. Neither the owners or employees of CancerTreatment.net nor the author(s) of site content take responsibility for any possible consequences from any treatment, procedure, exercise, dietary modification, action or application of medication which results from reading this site. Always speak with your primary health care provider before engaging in any form of self treatment. Please see our Legal Statement for further information.