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Neurofibromatosis (Clinical presentation (Cutaneous nodules, Brown skin…
Neurofibromatosis
Clinical
presentation
Cutaneous nodules
Brown skin patches
Hearing loss (NF2)
Cataracts (NF2)
Short stature
Large head (macrocephaly)
Complications
Learning disability
Common, often mild
Gastroenteritis
Bleeds
Obstruction
Musculoskeletal
Pseudoarthrosis
Scoliosis
Malignancy
NF1: optic glioma, sarcomas,
NF2: meningiomas, gliomas
Bilateral vestibular schwannomas
Scwannomatosis
NF2 only
Multiple tender cutaneous schwannomas
Neurological
Nerve root compression (weakness, parasthesia, pain)
Epilepsy
Epidemiology
Rare
AD inheritance
NF1>NF2
Presents in childhood
Diagnosis
Investigations
Bloods
Genetic testing (NF1, NF2, TS)
Imaging
CT/MRI head: (vestibular schwannomas)
Bedside
Obs
Examination
Derm exam
Brown skin macules (cafe au lait spots)
Violaceous nodules (dermal neurofibromas)
Firm, demarcated nodules (nodular neurofibromas)
Freckling (inguinal, axilla, skin folds)
Neuro exam
May have weakness, pain, parasthesia
Hearing loss (sensorineural, NF2)
Fundoscopy
May have cataracts (NF2), brown lisch nodules on iris (NF1)
Developmental exam
Developmental delay
History
POH
Scans, bloods, growth, gestation,
delivery, weight, complications
PMH
Growth and development
Vaccinations
Known medical conditions
PC/HPC
Developmental delay, seizures, hearing loss
skin signs (lumps/bumps, dark spots)
DH
Meds, allergies
FH
Neurofibromatosis, TS
Other neurological disorders
Diagnostic criteria
NF1
2+ of: >6 cafe-au-lait macules, 2+ neurofibromas, inguinal/axillary freckling, optic glioma, 2+ lisch nodules, osseus lesion, 1st degree relative with disorder
NF2
Any 1 of: bilateral vestibular schwannomas, neurofibroma/meningioma/glioma/schwannoma/juvenile cataract
Differentials
Congenital/genetic
Tuberous sclerosis
Neoplastic
Skin cancer/neurofibroma
Schwannomatosis (multiple tender schwannomas)
Infection
Cutaneous TB
Syphilis (gummas)
Idiopathic
Lipoma
Pathophysiology
Defect
AD mutation in NF1 or NF2 gene
Mechanism
Nervous system and skin both derived from ectoderm
Embryological disruption causing abnormalities of both
Neurofibromata can occur in the course of any peripheral nerve, including cranial
A neurofibromata in the cerebellarpontine angle can cause CN VIII palsy and cerebellar ataxia
Associated with MEN syndromes
Management
Conservative
Information, advice, support
MDT (geneticist, neurologist, nurse, neurosurgeon, PT/OT)
Genetic counselling (close relatives)
Yearly FU (cutaneous survey, obs esp. BP)
Surgical
Dermofibroma removal
Indication: troublesome e.g. pain/catching on clothing
MOA: remove troublesome growths,
unrealistic to remove all of them
Schwannoma removal
Indication: vestibular schwannomas
Prognosis
Life expectancy 15y for NF2
Most people with NF1 carry only the
cutaneous symptoms
Definition
Genetic neurocutaneous
syndrome of abnormalities
of the skin and nervous system
