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The neurofibromatoses (neurofibromatosis type 1 [NF1], neurofibromatosis type 2, and schwannomatosis) are related, but distinct, autosomal dominant tumor predisposition conditions characterized by tumors in the central and peripheral nervous systems. NF1 is the most common, with an estimated prevalence of 1 in 3000.
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NF1 has phenotypic overlap with other RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway.
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Clinical diagnostic
The Diagnosis and Management of Neurofibromatosis Type 1
Section snippets
Key points
Summary
The neurofibromatoses are a group of related hereditary tumor predisposition syndromes that show phenotypic overlap with each other and other genetic syndromes. The presence of characteristic cutaneous features and certain types of tumors should raise suspicion for the possibility of NF1 and prompt clinicians to refer patients to the appropriate specialists familiar with NF1 and related conditions. This is necessary as manifestations of NF1 are highly variable, within and across patients, and
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Disclosures: Dr K.I. Ly has nothing to disclose. Dr J.O. Blakeley receives research support from GlaxoSmithKline and served as a paid consultant for Abbvie and an unpaid consultant for Astra Zenica, Exelixis, and Springworks Therapeutics. She has served as the study principal investigator for clinical trials supported by Sanofi-Aventis and by Lily.