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Neurofibromatosis type 1 (NF1): Management and prognosis

Bruce R Korf, MD, PhD
Section Editors
Marc C Patterson, MD, FRACP
Helen V Firth, DM, FRCP, DCH
Deputy Editor
Elizabeth TePas, MD, MS


There are three major clinically and genetically distinct forms of neurofibromatosis. Neurofibromatosis type 1 (NF1), previously known as von Recklinghausen disease, is the most common type. The hallmarks of NF1 are the multiple café-au-lait macules and associated cutaneous neurofibromas. The condition is called segmental NF1 when clinical features are limited to one area of the body.

The management and prognosis of NF1 are reviewed here. The pathogenesis, clinical features, and diagnosis are discussed separately (see "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis"). The other two forms of neurofibromatosis, neurofibromatosis type 2 (NF2) and schwannomatosis, are also discussed in detail separately. (See "Neurofibromatosis type 2" and "Schwannomatosis".)


Longitudinal care for individuals with NF1 aims at the early detection and symptomatic treatment of complications as they occur. The decision to obtain testing such as imaging studies depends upon the history and physical findings. Clinical evaluation appears to be more useful to detect complications than are screening investigations in asymptomatic patients [1,2]. Thus, for example, guidelines of the Children's Tumor Foundation do not recommend neuroimaging as a screening modality for optic pathway gliomas (OPGs), although not all clinicians agree. (See "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis", section on 'Optic pathway gliomas' and "Neurofibromatosis type 1 (NF1): Pathogenesis, clinical features, and diagnosis", section on 'Bone abnormalities'.)

Both an expert panel [1] and the Genetics Committee of the American Academy of Pediatrics have published diagnostic and health supervision guidelines for children with NF1 [3]. Regular visits at yearly intervals should include:

Physical examination:

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Literature review current through: Nov 2017. | This topic last updated: Jan 06, 2017.
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