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Neuroboards: NCutan.
Neurocutaneous/Fakomatosis
disease | Genetics | inheritance | clinical |
---|---|---|---|
NF 1 | Chrom 17 | (blank) | (blank) |
NF1 | Chrom 17, neurfibromin | AD | 2/7: Cafe au lait spots, axillary freckling, >2 Lisch nodules, optic glioma, neurofibroma, first degree relative, boney abnl |
NF2 | Chrom 22 | AD | bilat CN 8 schwanommas, or unilateral + 1 first degree relative |
Tuberous sclerosis | Chrom 9, 16 | AD | skin lesion: hypopigmented rash, retinal tumor, tuber, cardiac rhabdomyomas, subependymal giant cell astrocytomas, lung lesions |
Von Hippel Landau | Chrom 3 | AD | hemangioblastoma of cerebellum, retina and spinal cord. + renal lesions |
Ataxia Telangectasia | Chrom 11 | AR | progressive cerebellar dysfunction, IgA deficiency, premature aging, conjunctival and cutaneous telangectasia |
Sturge Weber | ? | ? | Facial angioma. Leptomeningeal venous angioma. |