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Diagnostic Criteria For Neurofibromatosis Type 1

Two or more must be present: 1.Café-au-lait spots ≥6 (5 mm child, 15 mm adult) 2.Neurofibromas: ≥2 3.Plexiform neurofibroma: 1 4.Axillary (intertriginous) freckling 5.Optic nerve glioma 6.Lisch nodules (iris hamartomas): ≥2 7. “Distinctive bone lesions”: sphenoid wing dysplasia or long bone dysplasia 8.First-degree relative with neurofibromatosis 1

 

Diagnostic Criteria for Neurofibromatosis Type 2

1.Bilateral cerebellopontine angle (CPA) masses (histologic proof not required) 2.A first-degree relative with neurofibromatosis 2 and either        a. A unilateral CPA mass         b.Any two of the following: schwannoma                                                      ; neurofibroma                                                       ;meningioma                                                      ;  glioma                                                    ; juvenile posterior subcapsular lens                                                       opacity (cataract)