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80 Cards in this Set
- Front
- Back
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3 systems affected in NF1 |
skin eye MSK |
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3 skin-related abnormalities in NF1 |
neurofibroma cafe au lait spot inguinal/axillary freckling |
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4 eye-related abnormalities in NF1 ___ of these are diagnostic criteria |
Lisch nodule optic nerve glioma retinal hamartoma childhood glaucoma first 2 |
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3 MSK-related abnormalities in NF1 |
sphenoid dysplasia long bone cortex thickening pseudoarthrosis |
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3 kinds of neurofibroma |
cutaneous plexiform nodular |
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neurofibroma is comprised of ___ (3) |
Schwann cells fibroblasts mast cells |
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cutaneous neurofibromas present as ___ typically they are most numerous over ___ they typically develop at age ___ risk of malignant transformation is ___ |
nontender bump trunk adolescence low |
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plexiform neurofibromas do ___ which causes ___ (2) risk of malignant tranformation is ____ |
infiltrate overlying skin thickening hyperpigmentation high |
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prevalence of plexiform neurofibromas in NF1 is ___% |
50 |
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nodular neurofibromas present as ___ risk of malignant tranformation is ___ |
rubbery mass under skin high |
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NF1 diagnostic criteria for neurofibromas |
at least 2 cutaneous neurofibromas or at least 1 plexiform neurofibroma |
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cafe au lait spots are ___ pigmented |
hyper |
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NF1 diagnostic criteria for cafe au lait spots |
at least 6 spots, > 5mm if prepubertal, > 15mm if postpubertal |
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Lisch nodule is a ___ |
iris melanocytic hamartoma |
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Lisch nodules present as ___ |
asymptomatic |
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NF1 diagnostic criteria for Lisch nodule |
2 or more |
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pseudoarthrosis means ___ |
bowing of long bone |
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head size abnormality a/w NF1 |
macrocephaly |
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3 vascular abnormalities a/w NF1 |
renal artery stenosis moyamoya intracranial aneurysm |
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NF1 is caused by mutation in ___ on chromosome ___ |
neurofibromin 17 |
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when functional, neurofibromin does ___ |
activates a GTPase which inhibits Ras |
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___ is a non-neural tumor a/w NF1 |
pheochromocytoma |
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non-neoplastic, non-dysplastic criterion for NF1 |
NF1 in first-degree relative |
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criteria needed to dx NF1 |
2 |
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NF1 incidence |
1/3000 |
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NF2 incidence |
1/40,000 |
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3 systems affected in NF2 of these, only ___ contribute to dx |
skin eye CNS last 2 |
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3 skin manifestations of NF2 |
cafe au lait spots subcutaneous nodules intracutaneous tumors or plaques |
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eye manifestations of NF2 ___ of these are dx criteria |
subcapsular cataract epiretinal membranes retinal hamartomas first |
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CNS manifestations of NF2 |
vestibular Schwannoma meningioma glioma |
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intracutaneous tumor in NF2 is typically a ___ |
schwannoma |
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3 ways to dx NF2 |
b/l vestibular Schwannomas 1st degree relative with NF2 AND u/l vestibular Schwannoma 1st degree relative with NF2 AND 2 of: neurofibroma, meningioma, glioma, subcapsular cataract
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NF2 is caused by mutation in ___ aka ___ on chromosome ___ |
merlin schwannomin 22 |
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like NF1, TS affects ___ (3) it additionally affects ___ (4) |
skin eyes CNS heart lung kidney liver |
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TS incidence: 1 in ___ |
5,000-10,000 |
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5 skin manifestations of TS ___ (2) appear the earliest |
ash-leaf spot angiofibroma shagreen patch forehead plaque periungual fibroma ash-leaf spot forehead plaque |
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angiofibromas occur on ___ |
malar parts of face |
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shagreen patches are ___ with ___ appearance they occur on ___ |
thickened skin peau d'orange lower trunk |
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eye manifestations of TS |
retinal hamartoma (major criterion) retinal achromic patch (minor criterion) |
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3 CNS manifestations of TS all have histology with ___ |
hamartomas SEGA white matter heterotopia atypical neuronal + glial elements with astrocytosis |
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2 kinds of hamartoma in TS |
cortical glioneuronal hamartoma subependymal nodule |
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cortical glioneuronal hamartomas are aka ___ |
tubers |
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subependymal nodules occur most commonly at ___ they are remnants of ___ they may progress to ___ |
caudo-thalamic groove germinal matrix SEGA |
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medical treatment for SEGA |
rapamycin |
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cardiac manifestation of TS |
rhabdomyoma |
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pulmonary manifestation of TS |
lymphangioleiomyomatosis (LAM) |
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in lymphangioleiomyomatosis there is ___ (pathology) which causes ___ (histopathology) which causes ___ (2, clinically) |
proliferation of pulmonary smooth muscle diffuse interstitial fibrosis PTX chylous effusion/ascites |
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population at primarily at risk for lymphangioleiomyomatosis |
women, epecially during pregnancy |
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2 proposed treatments for lymphangioleiomyomatosis |
anti-estrogens mTOR inhibitors |
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anti-estrogens tried for lymphangioleiomyomatosis |
progesterone tamoxifen |
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mTOR inhibitors tried for lymphangioleiomyomatosis |
sirolimus everolimus |
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sirolimus is aka ___ |
rapamycin |
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renal manifestations of TS |
angiomyolipoma (major criterion) multiple cyts (minor criterion) |
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NF2 is caused by mutation in one of ___ (2) on chromosomes ___ (2) respectively
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tuberin (TSC1) hamartin (TSC2) 9 16 |
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VHL affects ___ (7) |
CNS eye ear kidney adrenal pancreas reproductive system |
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CNS manifestation of VHL |
hemangioblastoma |
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top 3 locations of VHL hemangioblastomas, IDOOF |
spinal cord (51%) cerebellum (38%) brainstem (10%) (supratentorial 2%) |
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eye manifestation of VHL |
retinal capillary hemangiblastoma |
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otic manifestation of VHL they present with ___ |
endolymphatic sac tumor of middle ear gradual or sudden CN8 dysfunction |
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endolymphatic sac tumor in VHL has ___ histology |
papillary cystadenoma |
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renal manifestation of VHL |
clear cell RCC |
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adrenal manifestation of VHL |
pheochromocytoma |
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2 pancreatic manifestations of VHL |
serous cystadenoma neuroendocrine tumor |
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reproductive system manifestations of VHL |
papillary cystadenoma of epididymis or broad ligament |
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VHL type 1 has low risk of ___ and high risk of ___ |
pheochromocytoma other manifestations |
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VHL type 2 has high risk of ___ and is subclassified according to ___ |
pheochromocytoma risk of RCC (2A low, 2B high, 2C none) |
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VHL incidence |
1/36,000 |
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VHL is caused by mutation in ___ on chromosome ___ |
pVHL 3 |
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normally pVHL does ___ (2) |
ubiquitylates HIF1alpha and HIF2alpha under normal oxygen levels (inhibiting angiogenesis) doesn't ubiquitylate HIF1 and HIF2 under hypoxic conditions (allowing angiogenesis) |
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Sturge-Weber affects ___ (3) |
skin CNS eye |
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skin manifestation of Sturge-Weber |
Port-wine nevus |
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classically, Port-wine nevus is located ___ly in ___ variant it is located ___ly |
face, V1 and V2 distributions in trunk dermatome |
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T/F: Port-Wine nevus/angioma is always unilateral |
false (b/l is "common") |
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CNS manifestation of Sturge-Weber |
leptomeningeal angioma |
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neurologic problems in Sturge-Weber |
seizure (80%) MR (50-60%) hemiparesis |
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___% of Port-wine nevi are associated with leptomeningeal angioma |
10-20 (and they "seldom" occur without nevus) |
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most common location for leptomeningeal angioma |
temporal lobe occipital lobe |
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occipital lobe angiomas commonly cause ___ |
VF defect |
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3 ocular manifestation of Sturge-Weber |
glaucoma choroidal angioma heterochromia |
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Sturge-Weber is caused by mutation in ___ on chromosome ___ |
GNAQ (G-protein receptor) 3 |
