Neurocutaneous Syndrome Flashcards
1
Q
NF1 / NF2
A
NF1 Cafe au lait Lisch nodules eyes Bony tibial psuedoarthorses Axillary + inguinal freckling Neurofibromas Pectus excavatum Scoliosis Hemi hypertrophy
NF2
2
Q
Tuberous Sclerosis
A
Hypomelanotic macules Facial angiofibromas (resemble acne) Forehead plaques Shagreen patch Ungal/subungal fibromas Skin tag Cafe au lait spot
3
Q
Sturge Weber
A
Facial capillary malformation - Port Wine stain
4
Q
Investigations neurocutaneous syndrome
A
Opthalmology assessment Genetic tests Biopsy of tumour MRI CT EEG Assessment other complications e.g. ECHO
