9. Phakomatoses

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Author:
sookylala
ID:
235317
Filename:
9. Phakomatoses
Updated:
2013-11-08 22:58:18
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phakomatoses
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phakomatoses
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  1. What are phakomatoses?
    • multisystem syndromes
    • characterised by multiple tumours or tumour like lesions
  2. 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
  3. 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
  4. 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
  5. What is the diagnostic criteria of NF2?
    • SCHWANNOMA
    • bilateral acoustic neuromas- hearing loss, tinnitus/imbalance
    • 1st deg relative with NF2+meningioma/glioma/cataract
  6. What are the ophthalmic features of NF2?
    • cataract
    • fundus lesions
    • oculomotor defects
    • 2 of: meningioma, glioma, schwannoma
  7. Tuberous sclerosis diagnositic criteria?
    epilepsy + mental retardation + adenoma sebaceum
  8. What are some cutaneous signs of tuberous sclerosis?
    • ash leaf spots
    • confetti skin lesions: cafe au lait
    • skin tags
    • adenoma sebaceum- nose/cheeks
  9. neurological features of tuberous sclerosis?
    • mental retardation
    • seizures
  10. ocular features of tuberosis sclerosis?
    • fundus astrocytomas
    • patchy iris hypopigmentation
    • iris colombomas
    • retinal harmatomas
  11. VHL Syndrome clinical features?
    • CNS haemangioma
    • renal carcinoma
    • cysts
  12. Sturge weber syndrome?
    • port wine stain, haemangioma
    • ipsilateral glaucoma, episcleral haemangioma
    • iris heterochromia
    • choroidal haemangioma

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