What is the presentation of neurofibromatosis?

Updated: Jan 30, 2020
  • Author: Ginard I Henry, MD; Chief Editor: Gregory Gary Caputy, MD, PhD, FICS  more...
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Answer

Answer

Clinical patterns include multiple neural tumors anywhere on the body. Findings including six or more café au lait macules (>0.5cm in prepubertal children, >1.5 cm in postpubertal children), axillary or inguinal freckling, optic gliomas, lisch nodules (pigmented iris hamartomas), and sphenoid wind dyplasia. Patients also have an increased risk of tumors including optic glioma, malignant peripheral nerve sheath tumor, neurosarcoma, juvenile myelomonocytic leukemia, rhabdomyosarcomas.


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