neurocutaneous disorders Flashcards by Rachel Hall

Q

what are neurocutaneous disorders?
examples

A

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Q

what is neurofibromatosis?

A

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Q

what is neurofibromatosis 1?
describe the genetics

A

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Q

what are nerve findigns in neurofibromatosis 1?

A

neurofibromas - reign tumours, develop on nerves, appear as bumps on trunk face etc

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Q

what are eye findings in neurofibromatosis 1?

A

lisch nodules - brown spots on iris

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Q

what are skin findings in neurofibromatosis 1?

A

cafe au lait spots - light brown macule
freckles, clusters in skin folds, esp axilla and groin

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Q

what are other findings in neurofibromatosis 1?

A

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Q

what can patients with neurofibromatosis 1 develop?

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Q

what is the diagnostic criteria for neurofibromatosis 1?

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Q

how do features evolve in neurofibromatosis 1?

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Q

what is NF2?
key features?

A

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Q

what is a schwanomma?

A

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Q

what is tuberous sclerosis?
hallmark? clinical features?

A

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Q

what are the genetics behind tuberous sclerosis?

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Q

what does tuberous sclerosis lead to in the body?

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Q

clinical features in tuberous sclerosis?

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A

Q

CNS tumours in tuberous sclerosis?

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A

Q

what are subepyndymal giant cell astrocytomas?

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A

Q

what is rhabdomyomas?

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A

Q

what is this?

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A

angiofibromaas in Tuberous sclerosis

Q

what is this?

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A

ash-leaf spot in tuberous sclerosis

Q

what is this?

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A

shagreen patch in tuberous sclerosis
orange peel or leather texture

Q

what is this?

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A

ungual fibroma in tuberous sclerosis

Q

what are renal angiomyolipomas found in tuberous sclerosis?

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A

what is sturge-weber syndrome?

what are the genetics in sturge-weber?

what are the face features in sturge-weber?

what is leptomeinigeal angioma in sturge-weber?

what is glaucoma in sturge-weber?

what is von hippel-lindau disease? pathogenesis?

what are features of von hippel-lindau?

what other tumours can occur in von hippel-lindau?

what is the genetic mechanism behind VHL?