neurocutaneous disorders Flashcards
what are neurocutaneous disorders?
examples
what is neurofibromatosis?
what is neurofibromatosis 1?
describe the genetics
what are nerve findigns in neurofibromatosis 1?
neurofibromas - reign tumours, develop on nerves, appear as bumps on trunk face etc
what are eye findings in neurofibromatosis 1?
lisch nodules - brown spots on iris
what are skin findings in neurofibromatosis 1?
cafe au lait spots - light brown macule
freckles, clusters in skin folds, esp axilla and groin
what are other findings in neurofibromatosis 1?
what can patients with neurofibromatosis 1 develop?
what is the diagnostic criteria for neurofibromatosis 1?
how do features evolve in neurofibromatosis 1?
what is NF2?
key features?
what is a schwanomma?
what is tuberous sclerosis?
hallmark? clinical features?
what are the genetics behind tuberous sclerosis?
what does tuberous sclerosis lead to in the body?
clinical features in tuberous sclerosis?
CNS tumours in tuberous sclerosis?
what are subepyndymal giant cell astrocytomas?
what is rhabdomyomas?
what is this?
angiofibromaas in Tuberous sclerosis
what is this?
ash-leaf spot in tuberous sclerosis
what is this?
shagreen patch in tuberous sclerosis
orange peel or leather texture
what is this?
ungual fibroma in tuberous sclerosis
what are renal angiomyolipomas found in tuberous sclerosis?
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?
