Neurofibromatosis Von Recklinghausen Disease

• Pathophysiology: NF1 gene localized to chromosome 17; NF2 gene localized to a defect in the long arm of chromosome 22

• Otologic SSx: retrocochlear hearing loss (acoustic neuromas)

• Other SSx: cafe-au-lait spots (giant melasomes >1.5 cm); neurofibromas are most commonly cutaneous although may involve the CNS (mental retardation), viscera, orbit (optic gliomas), or peripheral nerves; Lisch nodules (hamartomas of the eye); groin and axillary freckling; associated with pheochromocytomas

NF-1: (Classic Neurofibromatosis or von Recklinghausen Disease)

numerous cafe-au-lait spots, neurofibromas, approximately 5% risk of unilateral acoustic neuromas NF-2: (Central Neurofibromatosis) rare, associated with bilateral acoustic neuromas

• Dx: NF-1 requires 2 of the following characteristics (>6 six cafe-au-lait spots, 2 or more neurofibromas or 1 plexiform neurofibroma, axillary or groin freckling, optic nerve glioma, distinct bony lesions, first-degree relative with NF-1); NF-2 requires bilateral acoustic neuromas (neurofibromas exclusively involve the vestibulocochlear nerve), and first degree relative with an acoustic neuroma or 2 neurofibromas and other intracranial and spinal cord tumors, gliomas, schwannomas, or meningiomas

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