Neurocutaneous Disorders Flashcards
affects small (capillary-sized) blood vessels:
Sturge Weber syndrome
congenital, non-inherited developmental anomaly of neural crest derivatives d/t activating mutations in GNAQ gene:
Sturge Weber syndrome
port-wine stain:
Sturge Weber syndrome
ipsilateral leptomeningeal angioma leading to seizures:
Sturge Weber syndrome
episcleral hemangioma leading to increased IOP and early onset glaucoma:
Sturge Weber syndrome
Tram-track calcifications (opposing gyri):
Stuge Weber syndrome
TSC1 mutation on cx 9 or TSC2 mutation on cx 16:
Tuberous Sclerosis
Autosomal dominant inheritance with variable expression:
Tuberous Sclerosis
hamartomas
angiofibromas
mitral regurgitation
angiomyolipomas
rhabdomyoma
mental retardation
ash leaf spots
seizures
shagreen pathches
Tuberous sclerosis
increased incidence of subependymal giant cell astrocytomas and ungual fibromas:
Tuberous sclerosis
Mutation in NF1 tumor suppressor gene on cx 17:
Neurofibromatosis type 1
autosomal dominant with 100% penetrance:
NF1
café au lait spots
cutaneous neurofibromas
optic gliomas
pheochromocytoma
Lisch nidules
freckling axilla
hyperpigmented macules
NF1
Neurofibromin is a negative regulator of:
RAS
Mutation in NF2 tumor suppressor gene on cx 22:
Neurofibromatosis type 2
autosomal dominant inheritance of NF2 mutation:
NF2
BL acoustic neuromas
schwannomas
juvenile cataracts
meningiomas
ependymomas
NF2
autosomal dominant deletion of VHL gene on cx 3p:
von Hippel-Lindeau disease
function of pVHL:
ubiquinates hypoxia inducible factor 1a (HIF-1a)
Characterized by development of numerous tumors benign and malignant:
VHL disease
Hemangioblastoma (high vascularity with hyperchromatic nuclei) in brainstem, retina, and cerebellum
BL RCC
Angiomatosis (cavernous hemangioma in skin, mucosa, and organs)
Pheochromocytoma
VHL
