Neurofibromatosis I

Neurofibromatosis I 

Updated: 03/29/2020

© Jun Wang, MD, PhD

General features

• Also called von Recklinghausen disease, NF1
• Either autosomal dominant or de novo mutation
• 5 - 13% develop malignant peripheral nerve sheath tumor
• 2 - 4 x increased risk of other tumors (childhood CML, ganglioneuroma, meningioma, pheochromocytoma, rhabdomyosarcoma); acoustic neuroma (schwannoma), astrocytoma, gastric carcinoid, GIST, glomus tumor, lipoma, optic nerve glioma, Wilm tumor

Clinical presentations

• Multiple neurofibromas (plexiform, solitary)
• Plexiform neurofibromas relatively specific
• 6 or more cafe au lait spots over nerve trunks
• Lisch nodules (pigmented iris hamartomas, majority by age 6)

Pathogenesis

• Neurofibromin defect
• Resulted in ineffective conversion of RAS to inactive form

Genetic abnormality

• Mutation of NF1 (neurofibromin) at chromosome 17q11.2

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