Neurofibromatosis (3)

Question 1

What is this?

What are the 2 types of it?

Answer 1

➊ Autosomal dominant neurocutaneous disorder that affects the bone, soft tissue, skin, and nervous system

➋ * Type 1 NF
* Type 2 NF

Question 2

How does Type 1 NF present?

How does Type 2 NF present?

Answer 2

➊ * Café-au-lait macules - flat light brown birthmarks
* Lisch nodules - tiny tumours in the iris of the eye
* Multiple neurofibromas - tumours that hang off the skin
* Freckling in skin folds - called Crowe sign when in armpits

N.B. Lisch nodules don’t cause issues clinically, but are useful for the diagnosis.

➋ Multiple tumours and lesions on the brain and spinal cord. The first symptom is usually hearing loss due to a tumour growing on the auditory nerves. Often this is not apparent until the late teens or early 20s.