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Pathophysiology of Neurofibromatosis Type 1

2006; American College of Physicians; Volume: 144; Issue: 11 Linguagem: Inglês

10.7326/0003-4819-144-11-200606060-00010

1539-3704

Amy Theos, Bruce R. Korf,

Bone Tumor Diagnosis and Treatments

Reviews6 June 2006Pathophysiology of Neurofibromatosis Type 1Amy Theos, MD and Bruce R. Korf, MD, PhDAmy Theos, MDFrom the University of Alabama at Birmingham, Birmingham, Alabama. and Bruce R. Korf, MD, PhDFrom the University of Alabama at Birmingham, Birmingham, Alabama.Author, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-144-11-200606060-00010 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail Clinical PrinciplesNeurofibromatosis 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, café-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.Pathophysiologic PrinciplesNeurofibromatosis type 1 is a classic single-gene disorder with a ...References1. 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Korf, MD, PhD, Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294; e-mail, [email protected]edu.Current Author Addresses: Dr. Theos: Department of Dermatology, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294.Dr. Korf: Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Birmingham, AL 35294. 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