Phakomatoses

Neurological, ocular and cutaneous features with tendency to develop tumours especially hamartomas

Neurofibromatosis

Type 1

Commonest: mutation in neurofibromin gene (Chr17q)

• Cafe au lait spots

• Axillary freckling

• Neurofibromas

  • Plexiform neurofibromas of the upper eyelid produce a classic…