With neurofibromatoses, neuro refers to the nerves, fibro- refers to fibrous tissue, and -oma means growth, or tumor.
So neurofibromatosis refers to fibrous tumors originating from the nervous system.
The body’s central nervous system is made up of the brain and the spinal cord, which are surrounded by three protective layers called the meninges.
Part of the central nervous system are the cranial nerves, which originate in the brainstem and innervate the head and neck, and the spinal nerves, which originate in the spinal cord, and supply the rest of the body.
Each nerve is surrounded by a nerve sheath, which is produced by cells called fibroblasts.
Inside, each nerve there are several fascicles, and each fascicle, in turn, is made up of several axons.
The axons are the long projections of neurons, that carry the information as electrical signals running up and down their length.
Along the axon there are cells called Schwann cells, which produce a myelin cover for the axon.
The myelin helps electrical signals travel along the axon faster.
Now, neurofibromatoses are genetic diseases which cause non-cancerous growths to form in the body’s nerve tissue, and there are two types - type I and type II.
They’re caused by inheriting faulty copies of either the NF1 or NF2 gene, which are found on chromosomes 17 and 22, respectively.
Just remember, NF1 goes with chromosome 17 and NF2 goes with chromosome 22.
Both of these have an autosomal dominant inheritance pattern, so a child only needs one faulty copy from either parent to get the disease.
Normally, these are tumor suppressor genes, which means they stop cells from dividing uncontrollably.
So when there’s a mutation in the gene, it leads to uncontrolled growth of fibromas which are growths that have multiple cell types including neurons, Schwann cells, and other supporting connective tissue.
