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Neurofibromatosis 1.


Friedman JM1.


GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
1998 Oct 2 [updated 2018 May 17].

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Department of Medical Genetics, University of British Columbia, Vancouver, Canada



Neurofibromatosis 1 (NF1) is characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, iris Lisch nodules, and choroidal freckling. About half of people with NF1 have plexiform neurofibromas, but most are internal and not suspected clinically. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, scoliosis, tibial dysplasia, and vasculopathy.


The diagnosis of NF1 is usually based on clinical findings. Heterozygous pathogenic variants in NF1 are responsible for neurofibromatosis 1. Molecular genetic testing of NF1 is rarely needed for diagnosis.


Treatment of manifestations: Referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, cardiovascular system, endocrine system, spine, or long bones; surgical removal of disfiguring or uncomfortable discrete cutaneous or subcutaneous neurofibromas. Surgical treatment of plexiform neurofibromas is often unsatisfactory. Complete surgical excision, when possible, of malignant peripheral nerve sheath tumors. Treatment of optic gliomas is generally unnecessary as they are usually asymptomatic and clinically stable. Dystrophic scoliosis often requires surgical management, whereas nondystrophic scoliosis can usually be treated conservatively. Methylphenidate treatment often benefits children with attention deficit hyperactivity disorder. Surveillance: Annual physical examination by a physician familiar with the disorder; annual ophthalmologic examination in children, less frequently in adults; regular developmental assessment of children; regular blood pressure monitoring; MRI for follow up of clinically suspected intracranial tumors and other internal tumors. Begin annual mammography in women at age 30 with consideration of annual breast MRI in women between ages 30 and 50 years.


NF1 is inherited in an autosomal dominant manner. Half of affected individuals have NF1 as the result of a de novoNF1 pathogenic variant. The offspring of an affected individual are at a 50% risk of inheriting the altered NF1 allele, but the disease manifestations are extremely variable, even within a family. Prenatal testing for pregnancies at increased risk is possible if the pathogenic variant in a family is known.

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