sailing boat
Forum Elite
Topics: 54
Posts: 172
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i have a doubt,
does nf-2 also have cafe au lait spots
or it just has b/l acostic neuromas, and cataracts
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| sailing boat
Forum Elite
Topics: 54
Posts: 172
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well i just found it,
no cafe au lait spots in nf-2, was always confused on this one
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder predisposing to multiple neoplastic lesions. The pathognomonic findings are bilateral acoustic neuromas (schwannomas). Astrocytomas, multiple meningiomas, and occasional ependymomas are also encountered in persons with NF2 [124]. This disorder is due to a mutation in the NF2 gene, a tumor suppressor gene on chromosome 22 which encodes a membrane cytoskeletal protein called merlin or schwannomin [125] that appears to be involved in actin-cytoskeleton organization [126]. Other modifier genes may also be involved
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| cirus
Forum Guru
Topics: 108
Posts: 740
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Neuro fibromatosis 2 may have Cafe au Lait spots, but they aren't a part of the diag criteria..
to diag it ---> 1.. Bilateral acoustic neuroma, or 1st degree relative
2..Unlilat acoustic neuroma or glioma or meningioma or nerofibroma or shwamoma
+/- cafe au lait spots, seizures..
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