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What are phakomatoses?
- multisystem syndromes
- characterised by multiple tumours or tumour like lesions
What classifies NF1?
- 6 or more cafe au lait spots: prepub: >0.5 post pub: >1.5
- 2 or more plexiform/nf
- freckling in axilla or groin
- optic glioma
- >2 lisch nodules
- distinctive bony lesions
- 1st degree relative with NF1
systemic features of NF1?
- intracranial tumours
- nf- discrete (soft nodules/flabby lesions). nodular plexiform (bag of worms- s lid), diffuse plexiform (infiltrate, thick folds of skin)
- skeleta: short, large head, scoliosis
- skin: cafe au lait
What are ophthalmic features of NF1?
- orbit: optic nerve glioma, orbital tumours, encephalovele
- eyelid nf
- iris lesions: lisch, ect uvae
- glaucoma: rare
- fundus lesions: choroidal naevi, retinal astrocytes
What is the diagnostic criteria of NF2?
- bilateral acoustic neuromas- hearing loss, tinnitus/imbalance
- 1st deg relative with NF2+meningioma/glioma/cataract
What are the ophthalmic features of NF2?
- fundus lesions
- oculomotor defects
- 2 of: meningioma, glioma, schwannoma
Tuberous sclerosis diagnositic criteria?
epilepsy + mental retardation + adenoma sebaceum
What are some cutaneous signs of tuberous sclerosis?
- ash leaf spots
- confetti skin lesions: cafe au lait
- skin tags
- adenoma sebaceum- nose/cheeks
neurological features of tuberous sclerosis?
- mental retardation
ocular features of tuberosis sclerosis?
- fundus astrocytomas
- patchy iris hypopigmentation
- iris colombomas
- retinal harmatomas
VHL Syndrome clinical features?
- CNS haemangioma
- renal carcinoma
Sturge weber syndrome?
- port wine stain, haemangioma
- ipsilateral glaucoma, episcleral haemangioma
- iris heterochromia
- choroidal haemangioma
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