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31 Cards in this Set
- Front
- Back
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Cobb Syndrome, aka
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cutaneomeningo-spinal angiomatosis
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Cobb Syndrome, skin features
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port wine stain or angiokeratomas in dermatomal distribution, corresponding with segment or two of area of spinal cord
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Cobb syndrome, epidemiology
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not familial
onset in childhood or adolescence M>F |
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Cobb syndrome, neuro features
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associated with AVM or venus angioma of spinal cord
associated with angioma of vertebrae or kidney, kyphoscoloiosis |
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Sturge-Weber Syndrome, aka
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encephalotrigeminal angiomatosis
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Sturge-Weber syndrome, epidemiology
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dominant partial trisomy or not familial
M=F |
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Sturge-Weber syndrome, skin findings
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2/3 present with hemangioma at birth
ipsilateral capillary angioma or PWS in distribution of superior and middle branches of trigeminal nerve |
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Sturge-Weber syndrome, CNS findings
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associated with cavernous sinus changes. No consistent relationship between extent of skin lesion and degree of meningeal involvement.
angioma of meninges intracranial gyriform calcifications MR (60%), focal epilepsy hemiparesis, contralateral to skin lesions visual impariment |
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Sturge-Weber, systemic associations
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renal angioma, coarcation of aorta, high-arhed palate, abnormal ears
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Osler-Weber-Rendu, aka
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hereditary hemorrhagic telangiectasis
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Osler-Weber-Rendu, epidemiology
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AD, M=F
childhood onset |
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Osler-Weber-Rendu, skin findings
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telangiectasia of skin and mouth
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Osler-Weber-Rendu, CNS findings
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angiomas of brain or spinal cord
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Osler-Weber-Rendu, systemic associations
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pulm AVM
anemia from hemorrhage from GI/GU bleed |
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Fabry-Anderson syndrome, aka
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angiokeratoma corporis diffusum
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Fabry-Anderson, genetics & epi
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X linked recessive
males have full syndrome |
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Fabry - Anderson syndrome, features
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angiokeratomas, cardiomegaly, extremity pain, albuminuria, hypohidrosis, htn
also: stooped posture, slender limbs, dilated tortuous conjunctival and retinal vessels |
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classic skin finding in Fabry - Anderson syndrome:
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small clustered angiokeratomas, symmetric, mucosal, increased over bony prominences and palmar mottling
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CNS findings in Fabry-Anderson syndrome
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CVA, neuronal glycolipid deposition (peripheral neuritis)
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Fabry disease, diagnosis
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urinary glycolipids, ceramide trihexoside
slit lamp, bx renal or marrow == shows lipid deposits |
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ataxia telangiectasia, aka
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oculocutaneous telangiectasia
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ataxisa telangiectasia, genetics and epidemiology
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AR
M=F, childhood onset |
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ataxia telangiectasia, skin findings
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telangie tasia, skin inelasticity
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ataxia telangiectasia, CNS findings
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progressive cerebellar ataxia
ocular telangiectasia MR slow speech, decreased DTR, nystagmus, poor ocular control |
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ataxia telangiectasia, diagnosis
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low IgA (or absent)
increased AFP |
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ataxia telangiectasia, systemic associations
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absent thymus, small spleen, sinopulm infection, malignancy: reicular cell sarcoma, hodgkin's, lymphosarcoma, gastric carcinoma
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von Hippel Lindau, aka
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angiomatosis retinae et cerebelli syndrome
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VHL, genetic and epi
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AD, adult onset, M=F
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VHL, skin fidings
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PWS in some, most CALM
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VHL, CNS findings
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cerebellar hemangioblastoma
spinal hemangioblastoma (rare) retinal hemangiomas, tangel of vessels away from disc |
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VHL, systemic symptoms
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pheo, pancreatic cyst, hepatic angioma, renal hypernephroma, polycthemia (2/2 erythropoetic substance from tumor)
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