Neurofibromatosis Type 1

Genetic condition that causes tumours along the nervous system

Aetiology

• Caused by mutations in the NF1 gene

Clinical presentation

• Cafe au lait macules

• Neurofibromas

• Plexiform neuroma - diffuse

• Axillary or inguinal freckling

• Optic glioma

• 2 or more Lisch nodules

• Distinctive bony lesion