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Physiology in Medicine review article. Neurofibromatosis type 1 (NF1) was formerly known as von Recklinghausen disease. It has autosomal dominant inheritance with complete penetrance, variable expression, and a high rate of new mutation. It affects approximately 1 in 3500 individuals worldwide. Diagnostic clinical signs include neurofibromas, cafeÂ´ -au-lait macules, skinfold freckling, skeletal dysplasia, Lisch nodules, and optic gliomas. Persons with NF1 are at increased risk for malignant conditions, especially malignant peripheral nerve sheath tumor (MPNST), leukemia, and rhabdomyosarcoma. Other complications include cognitive problems and vascular dysplasias. Molecular genetic testing is available. Clinical trials of potential therapies for plexiform neurofibromas are under way.
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