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Neurofibromatosis Type 1
NF1 Features
The impact of NF1 gene mutations is highly varied but generally involves symptoms of the nervous system, skin, skeleton, and cardiovascular system, including an increased risk of cancer and cardiovascular disease. The most common manifestations attributed to NF1 include:
SKIN NEUROFIBROMAS
In summary, NF1 is a progressive genetic disorder in which patients (and doctors) generally wait for symptoms to develop, and then react with symptomatic treatments such as tumor resections, spinal fusions, pain/ADD medications, school related interventions and (mostly ineffective) tumor therapies (i.e., MEK inhibitors).
CAFE-AU-LAIT MACULES
PLEXIFORM TUMOR
SCOLIOSIS