There is no definitive medical treatment for NF1; management is currently limited to surveillance and symptomatic treatment of symptomatic manifestations. Life expectancy is decreased on average, with disease-related mortality due to malignancy and vascular accidents.[11] Affected individuals should be seen on a regular basis by a physician familiar with the disorder. Children should be followed by an ophthalmologist for evidence of optic glioma. Neurofibromas can be removed

Table 2 Diagnostic criteria for NF1 (top) and variant forms of NF1 (bottom)

• At least six cafe-au-lait macules 5 mm prepuberty

15 mm postpuberty

• Skin-fold freckles

• Two or more neurofibromas/one plexiform neurofibroma

• Two or more iris Lisch nodules

• Characteristic skeletal dysplasia Tibia


• Affected first-degree relative

Variant form Features

Familial multiple cafe-au-lait spots

Spinal neurofibromatosis Watson syndrome Segmental NF

Autosomal dominant multiple cafe-au-lait spots with no other signs of NF1; some families allelic to NF1, others not

Multiple spinal nerve root neurofibromas, but no other NF1 features; may be allelic to NF1 or NF2

Pulmonic stenosis, developmental delay, cafe-au-lait spots; allelic to NF1

Features of NF1 confined to a restricted body region; most likely due to mosaicism for NF1 mutation

An individual who fulfills any two criteria can be diagnosed as being affected.

Table 3 Major types of NF1 gene mutation and applicable approaches to mutation detection

Type of mutation


Whole gene deletion

Multiexon deletion or small insertion

Splicing mutation

Stop mutation/frameshift

Missense mutation Chromosome rearrangement

FISH, microsatellite analysis for hemizygosity

RT-PCR analysis of RNA; Southern analysis; sequence analysis of cDNA Analysis of cDNA for size, followed by sequencing; sequencing of intron-exon borders Protein-truncation assay followed by sequencing, or direct sequencing of cDNA or genomic DNA

Sequencing of cDNA or genomic DNA Chromosomal analysis surgically, although regrowth of plexiform lesions is common. Optic gliomas that are asymptomatic do not need to be treated, but symptomatic lesions are treated with chemotherapy (vincristine/carboplatin). Children should be followed for the occurrence of learning disabilities and attention deficit disorder, both of which are managed by standard means. Affected individuals should be counseled regarding the warning signs of malignancy, particularly unexplained pain or sudden growth of a neurofibroma. Clinical trials are now underway toward development of nonsurgical treatments of neurofibromas, particularly plexiform neurofibromas. Clinical trials are tracked on the website http://

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