Flashcards in Commonly tested pathology syndromes Deck (10):
Von Recklinghausen's disease
neurofibromatosis type 1
neurofibromas, optic nerve gliomas
lishc nodules (pigmented nodules on the iris)
cafe au lait spots (hyperpigmented cutaneous macules)
main two features of neurofibromatosis type 2 (Autosomal dominant)
bilateral cranial nerve V III schwannomas and multiple meningiomas
major clinical featues of Sturge weber syndome
neurocutaneous disorder characterized by facial angiomas and leptomeningeal angiomas
skin involvement overlays opthalmic (V1) and maxillary (V2) distributions of trigeminal nerve
associated with mental retardation
skull radiopacities with skull x-ray showing "tram-track" calcifications
major clinical features of tuberous sclerosis:
cortical and subependymal hamartomas
cutaneous angiofibromas (adeoma sebaceum)
visceral cysts and other hamartomas
what is the most common complication of tuberous sclerosis?
what is osler-weber-dendu syndrome?
hereditary hemorrhhagic telangiectasia
autosomal dominant congential tangiectasias
rupture causes epistaxis and GI bleeding or hematuria
pt presents with cerebellar hemangioblastoma in association with congential cysts of the kidneys/ liver or pacreas. What was the likely Dx?
Von Hippel-Lindau disease
What is the cause of von hippel-lindau disease?
look it up!
what is the cause of Peutz Jeghers disease?
autosomal dominant mutations in erene/threonine kinase 11 (STK11) on chromasome 19