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Neurofibromatosis 1 : Neurofibromas

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Neurofibromatosis 1 (NF1; previously known as von Recklinghausen disease) is an autosomal dominant genetic disorder with very high penetrance affecting about 1 in 3000 individuals. It is characterized by multiple cafe-au-lait spots, neurofibromas, and iris hamartomas (Lisch nodules).

Other manifestations include: CNS lesions (optic nerve glioma, astrocytoma, heterotopias), skeletal abnormalities (osteolytic lesions resembling non-ossifying fibroma), vascular abnormalities (renovascular hypertension due to intimal proliferation), gynecomastia, non-neural tumors (pheochromocytoma, myelogenous leukemia), and GIST.

Neurofibromas appear during childhood or adolescence as slow-growing painless lesions in virtually any body location. They may be of localized, plexiform, or diffuse types. Plexiform neurofibroma is virtually diagnostic of NF1.

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