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26 Cards in this Set
- Front
- Back
Sturge Weber
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Port wine stains
Leptomeningeal angiomas Pheochromocytoma |
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Port wine stains (SW) in what distribution
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V1
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Leptomeningeal angiomas
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Sturge Weber
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Pheochromocytomas
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SW, VHL, NF1, MEN2a and 2b
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Inheritance - SW
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Sporadic
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Can present with glaucoma, seizures, hemiparesis, mental retardation
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SW
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Hamartomas in CNS, skin, organs
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Tuberous sclerosis
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Cardiac rhabdomyomas
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Tuberous sclerosis
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Renal angiomyolipoma
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Tuberous sclerosis
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Subependymal giant cell astrocytoma
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Tuberous sclerosis
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Mitral regurgitation
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Tuberous sclerosis
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Seizures
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SW, Tuberous sclerosis
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Hypopigmented ash leaf spots
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Tuberous sclerosis
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Sebaceous adenoma
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Tuberous sclerosis
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Shagreen patch (orange peel texture)
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Tuberous sclerosis
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Inheritance Tuberous sclerosis
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AD
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Cafe-au-lait spots
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NF1, McCune-Albright
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Pigmented iris hamartomas
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(Lisch nodules)
NF1 |
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Cutaneous rubbery nodules in skin
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Neurofibromas
NF1 |
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Optic gliomas
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NF1
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Cavernous hemangiomas
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Skin, mucosa, organs
VHL |
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Bilateral renal cell carcinoma
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VHL
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Hemangioblastoma in retina, cerebellum, brainstem
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VHL
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NF1 presentation
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Cafe au lait spots
Pigmented iris hamartomas Neurofibromas in skin Optic gliomas Pheochromocytoma |
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Tuberous sclerosis presentation
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hamartomas in CNS, skin, organs
Cardiac rhabdomyomas Renal angiomyolipoma Giant cell astrocytoma MR Hypopigmented spots Seizures Sebaceous adenoma Shagreen patch |
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VHL presentation
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Cavernous hemangiomas
Bilateral renal cell carcinoma Hemangioblastoma in retina, brainstem, cerebellum Pheochromocytoma |