Neurofibromatosis
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Neurofibromatosis
Pathology
Central and peripheral nervous system disorders
Amyotrophic lateral sclerosis
Neurofibromatosis
Sturge-Weber syndrome
Tuberous sclerosis
von Hippel-Lindau disease
Central nervous system disorders
Brain herniation
Broca aphasia
Kluver-Bucy syndrome
Wernicke aphasia
Wernicke-Korsakoff syndrome
Acoustic neuroma (schwannoma)
Adult brain tumors
Pediatric brain tumors
Pituitary adenoma
Ischemic stroke
Transient ischemic attack
Brain abscess
Cavernous sinus thrombosis
Creutzfeldt-Jakob disease
Encephalitis
Epidural abscess
Meningitis
Neonatal meningitis
Aqueductal stenosis
Cerebral palsy
Chiari malformation
Dandy-Walker malformation
Septo-optic dysplasia
Spina bifida
Spinocerebellar ataxia (NORD)
Syringomyelia
Tethered spinal cord syndrome
Alzheimer disease
Creutzfeldt-Jakob disease
Delirium
Frontotemporal dementia
Lewy body dementia
Normal pressure hydrocephalus
Vascular dementia
Acute disseminated encephalomyelitis
Central pontine myelinolysis
JC virus (Progressive multifocal leukoencephalopathy)
Multiple sclerosis
Transverse myelitis
Cavernous sinus thrombosis
Cluster headache
Idiopathic intracranial hypertension
Migraine
Tension headache
Trigeminal neuralgia
Arteriovenous malformation
Epidural hematoma
Intracerebral hemorrhage
Saccular aneurysm
Subarachnoid hemorrhage
Subdural hematoma
Essential tremor
Huntington disease
Opsoclonus myoclonus syndrome (NORD)
Parkinson disease
Restless legs syndrome
Torticollis
Early infantile epileptic encephalopathy (NORD)
Epilepsy
Febrile seizure
Brown-Sequard Syndrome
Cauda equina syndrome
Friedreich ataxia
Neurogenic bladder
Syringomyelia
Treponema pallidum (Syphilis)
Vitamin B12 deficiency
Concussion and traumatic brain injury
Peripheral nervous system disorders
Poliovirus
Spinal muscular atrophy
Charcot-Marie-Tooth disease
Guillain-Barre syndrome
Bell palsy
Trigeminal neuralgia
Carpal tunnel syndrome
Erb-Duchenne palsy
Klumpke paralysis
Sciatica
Thoracic outlet syndrome
Ulnar claw
Winged scapula
Lambert-Eaton myasthenic syndrome
Myasthenia gravis
Nervous system pathology review
Adult brain tumors: Pathology review
Central nervous system infections: Pathology review
Cerebral vascular disease: Pathology review
Congenital neurological disorders: Pathology review
Dementia: Pathology review
Demyelinating disorders: Pathology review
Headaches: Pathology review
Movement disorders: Pathology review
Neurocutaneous disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Pediatric brain tumors: Pathology review
Seizures: Pathology review
Spinal cord disorders: Pathology review
Traumatic brain injury: Pathology review
Assessments
Neurofibromatosis
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High Yield Notes
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Neurofibromatosis
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USMLE® Step 1 style questions USMLE
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External References
First Aid
2016
Café-au-lait spots
neurofibromatosis type 1 as cause p. 71, 495
Lisch nodules
neurofibromatosis type 1 as cause p. 71, 495
NF1 gene
neurofibromatosis type 1 and p. 71, 495
Optic gliomas
neurofibromatosis type 1 as cause p. 71, 630
neurofibromatosis type I as cause p. 495
Pheochromocytomas p. 320, 645
neurofibromatosis type 1 as cause p. 71, 495
Transcript
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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.
Summary
Neurofibromatosis is a genetic disorder characterized by fibrous tumors that affect the development and function of the nervous system. There are three known types of neurofibromatosis: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis.
NF1 is due to a mutation in the NF1 gene on chromosome 17, and generally affects the skin and extremities. NF1 causes cutaneous neurofibromas (benign tumors that grow from the nerve sheath), caf-au-lait spots (flat patches with milky-coffee color), and Lisch nodules (small tan colored bumps). NF2 is caused by a mutation in the NF2 gene on chromosome 22, and is associated with bilateral acoustic neuromas that can cause tinnitus, and bilateral gradual loss of hearing. NF2 is also associated with multiple meningiomas in the brain and spinal cord.
Schwannomatosis is a rare form of neurofibromatosis, characterized by multiple schwannomas, pain, and numbness in the affected areas. Unlike NF2, schwannomatosis spare the vestibular nerve.
Sources
- "Robbins Basic Pathology" Elsevier (2017)
- "Harrison's Principles of Internal Medicine, Twentieth Edition (Vol.1 & Vol.2)" McGraw-Hill Education / Medical (2018)
- "Pathophysiology of Disease: An Introduction to Clinical Medicine 8E" McGraw-Hill Education / Medical (2018)
- "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
- "Neurofibromatosis" Orthopaedics and Trauma (2015)
- "Review Article : Molecular and Cellular Mechanisms Underlying the Cognitive Deficits Associated With Neurofibromatosis 1" Journal of Child Neurology (2002)
- "The Neurofibromatosis 2 Tumor Suppressor Gene Product, Merlin, Regulates Human Meningioma Cell Growth by Signaling through YAP" Neoplasia (2008)
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