Neurofibromatosis

Key Information

Appropriate Tests

 

Clinical diagnosis.

A multisystem disorder with dominant inheritance, characterised by multiple cutaneous and deep neurofibromas together with café au lait spots and axillary freckling.

Malignant degeneration of neurofibromas can occur.

Additional information about genetic tests may be available in Catalogue of Genetic Tests and Laboratories.

Type 1

 

  • Glioma

 

  • Meningioma

 

  • Phaeochromocytoma

 

Type 2

 

  • Acoustic neuroma

 

  • Meningioma

 

  • Astrocytoma