Neurofibromatosis
Aka. NF1
Introducing You to NF1
NF1 is a disorder characterized by the growth of noncancerous tumors called neurofibromas. Neurofibromas form on, or under the skin, as well as in the brain and the peripheral nervous system. The disorder is caused by a mutation in a gene on a chromosome 17.
How to Catch Neurofibromatosis
Most of the time you catch Neurofibromatosis from a parent. The disorder is inherited in an autosomal dominant pattern. This means, a child only needs to inherit on copy of the defective gene to get the disorder. Each child of a parent who has NF1 has a 1 in 2 chance of getting the desease.
Some of the Top Symptoms
Cafè au Lait Spots
These are caused by a collection of pigmented-producing melanocytes in the epidermis of the skin. Having six or more café au lait spots greater than 5 mm in diameter before puberty, or greater than 15 mm in diameter after puberty, is a diagnostic feature of neurofibromatosis type I, but other features are required to diagnose NF-1.
Neurofibroma
A benign nerve sheath tumor in the peripheral nervous system. Usually found in individuals with neurofibromatosis type I (NF1). Dermal neurofibromas are well circumscribed solid rumors with limited size. Plexiform nupeurofibromas originate from subcutaneous or visceral peripheral nerves and multiple fascicles along the length of a nerve.
Bone Defects
Bone defects are a lack of bone tissue in a body area, where bone should normally be. Bone defects are a serious illness that can result after a pathological process has destroyed vital components of the bone.
Scoliosis
A lateral (toward the side) curvature in the normally straight vertical line of the spine.
Lische Nudules
A pigmented hamartomatous nodular aggregate of dendritic melanocytesaffecting the iris,[1][2] named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937.
Optic Nerve/Optic Glioma
When there are minor rumors on the optic nerve, which is the nerve going from your eye to your brain.
How Neurofibromotosis is Treated
Doctors Say...
There is no cure or treatment for NF1, but surgery can remove tumors and correct malformed bones. In a very small percentage of cases, the tumors become cancerous. As in other cancers, these tumors are surgically removed and treated with chemotherapy or radiation (to kill cancer cells).
(..not so) Fun Facts
Neurofibromatosis was first described in medical literature by Dr. Friedrich von Recklinghausen. NF was called Von Recklinghausen's disease for many years. People who have NF1 may have very few neurofibromas or they may have thousands of them.
Email: 20pchadam@stringtheoryschools.com
Website: http://learn.genetics.utah.edu/content/disorders/singlegene/nf1/
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