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Characterized by multiple café au lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules. Learning disabilities are present in at least 50% of individuals with NF1. Less common but potentially more serious manifestations include plexiform neurofibromas, optic nerve and other central nervous system gliomas, malignant peripheral nerve sheath tumors, and scoliosis.
The NIH diagnostic criteria for NF1 are met in an individual who has two or more of the following features:
-Six or more café au lait macules (Figure 1) over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
- Two or more neurofibromas (Figure 2) of any type or one plexiform neurofibroma (Figure 3)
- Freckling in the axillary or inguinal regions
- Optic glioma
- Two or more Lisch nodules (iris hamartomas)
- A distinctive osseous lesion such as sphenoid dysplasia or tibial pseudarthrosis
- A first-degree relative (parent, sib, or offspring) with NF1 as defined by the above criteria
loss-of-function mutations of NF1 are responsible for the vast majority of cases of NF1.
The clinical manifestations of neurofibromatosis 1 (NF1) are extremely variable
A Noonan syndrome phenotype occurs in approximately 12% of individuals with NF1
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