Neurocutaneous/Fakomatosis
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
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| NF 1 | Chrom 17 | (blank) | (blank)
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| NF1 | Chrom 17, neurfibromin | AD | 2/7: Cafe au lait spots, axillary freckling, >2 Lisch nodules, optic glioma, neurofibroma, first degree relative, boney abnl
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| NF2 | Chrom 22 | AD | bilat CN 8 schwanommas, or unilateral + 1 first degree relative
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| Tuberous sclerosis | Chrom 9, 16 | AD | skin lesion: hypopigmented rash, retinal tumor, tuber, cardiac rhabdomyomas, subependymal giant cell astrocytomas, lung lesions
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| Von Hippel Landau | Chrom 3 | AD | hemangioblastoma of cerebellum, retina and spinal cord. + renal lesions
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| Ataxia Telangectasia | Chrom 11 | AR | progressive cerebellar dysfunction, IgA deficiency, premature aging, conjunctival and cutaneous telangectasia
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| Sturge Weber | ? | ? | Facial angioma. Leptomeningeal venous angioma.
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