Neurofibromatosis Type 1
- Day Lee
- Aug 16, 2023
- 3 min read
Introduction
It is easy to understand the word neurofibromatosis(NF) when we separate it into two parts, neuro and fibromatosis. Neuro indicates the nerves or nervous system. Fibromatosis means multiple fibromas, tumors consisting of fibrous tissues. Therefore, neurofibromatosis(NF) is a genetic disorder that causes tumors to form on nerve tissues and mostly appears during the first decade of life. NF-1, NF-2, and Schwannomatosis are the three types of neurofibromatosis.
NF-1
Neurofibromatosis type 1 is a challenging disease to treat because of its unpredictability and complexity. It is difficult to diagnose a person with NF-1 because the tumors’ size, shape, and growth rate highly depend on the patient.
Causes of NF-1
Plexiform neurofibromas(PN), benign tumors, characterize rare and progressive genetic conditions, passing the cancer risk from generation to generation in a family. Mutations of the NF-1 gene typically lead to symptoms of NF-1 as well as the production of multiple nerve tumors that could be malignant. According to the American Journal of Neuroradiology written by S. Borofsky and L.M. Levy , the NF-1 gene is located on chromosome 17 which produces neurofibromin and controls cell growth. In order to know the process of hereditary transmission, you have to understand how the genes transfer in meiosis. Every normal cell in the human body contains 23 inherited chromosomes each from the mother and the father. Since NF-1 follows an autosomal dominant inheritance pattern, one mutated gene from one parent is inherited. In other words, a child of a parent with a mutation has a 50% chance of getting a mutated gene.
Preimplantation genetic diagnosis(PGD) is a solution for people who want to have a child but carry mutated genes that could cause cancer syndrome. Throughout the Vitro fertilization, unaffected embryos will be implanted in the uterus, decreasing the risk of having a child with genetic problems. But, make sure to think about the financial, physical, and emotional effects of PGD and talk with an expert working in fertility clinics.
Symptoms
The following NF-1 diagnosing criteria was confirmed by a National Institutes of Health Consensus Conference in 1987. If you have at least two features on these criteria, suspect you have NF-1.
6 or more café-au-lait spots. These spots must be more than 5 millimeters (mm) in diameter in young children and more than 15 mm in diameter after puberty.
2 or more neurofibromas or 1 plexiform neurofibroma
Freckling around the armpits or groin
Optic glioma is a tumor on the optic nerve in the brain that affects vision
2 or more Lisch nodules, which are tumors on the iris of the eye
Specific bone changes, including sphenoid dysplasia, which is an abnormality of 1 of the bones forming the skull, or thinning of the long bones
A parent, sibling, or child with NF-1
1. Café-au-lait spots
Café-au-lait spot is a hyperpigmented lesion, the abnormal area of tissues due to the increase of pigments that could get bigger or change appearance. While approximately 10% - 25% of the general population has café-au-lait spots, 6 or more of them should be considered a symptom of NF-1.
2. Neurofibromas and Plexiform Neurofibromas
A neurofibroma is a noncancerous tumor formed on nerves in the body which creates a lump on the skin or under the skin. Although neurofibromas do not cause critical medical problems, they can change a person’s appearance. Plexiform neurofibromas indicate benign tumors that grow under the skin or deeper in the body that destroy the structure of bones, skins, and muscles near the spot. It develops into cancerous tumors in 3-5 people out of 100 people who have NF-1.
3. Other Symptoms
High blood pressure:
Learning disabilities: about 50% of people with NF-1 have learning disabilities
Childhood leukemia
Scoliosis: curving of the spine
Bone changes → Short stature (height)
Treatments
Unfortunately, there is no cure for NF-1 but we are able to manage the symptoms. Unless it is a plexiform neurofibroma (PN), the tumor growing on or from the nerves can be removed through surgeries. Cancer.Net states that it is very difficult not to hurt the nerves since PN spreads all over the body which is why PN should be treated with cancer medications or radiation therapy.
Conclusion
The faster you find the symptoms for NF-1, the better the outcome. If you or someone you know has NF-1, remember that people are always willing to help and support those suffering with this disease.
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