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Nice case - Plexiform neurofibromas are strongly associated with neurofibromatosis type I (an autosomal dominant disease caused by mutations in the NF1 gene). The diagnostics criteria for NF1 are as follows: Diagnostic criteria for NF-1 (The diagnostic criteria are met if 2 or more of the features listed are present.) 1. Six or more café au lait macules larger than 5 mm in greatest diameter in prepubertal individuals and those larger than 15 mm in greatest diameter in postpubertal individuals 2. Two or more neurofibromas of any type or 1 plexiform neurofibroma 3. Freckling in the axillary or inguinal regions 4. Optic glioma 5. Two or more Lisch nodules (iris hamartomas) 6. A distinctive osseous lesion, such as sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis 7. A first-degree relative with NF-1 according to the above criteria

----Comment by: PathDoc15 on 8/8/2008 5:22:48 AM

     

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