Neurocutaneous Syndromes or Phakomatoses

Neurocutaneous Syndromes or Phakomatoses are conditions that affected the brain and the skin. These include:

  • Neurofibromatosis Type 1 and 2
  • Schwannomatosis
  • Tuberous Sclerosis
  • Von Hippel Lindau Syndrome 

What is Neurofibromatosis Type1?

Neurofibromatosis type 1 (NF1) is an inherited condition causing tumours on nerve tissue anywhere in the body and a variety of other effects. It occurs in 1 in 3000 people and affects boys and girls equally. In 1882 a German pathologist called Freidrich Daniel von Recklinghausen first characterised the tumours in  neurofibromas which consist of mingling of nerve cells and fibrous tissue.The main features include six or more café au lait (CAL) spots on the skin, freckling in the armpits or groin area, brown spots on the irises (Lisch nodules) and lumps under the skin (neurofibroma). NF1 is sometimes referred to as von Recklinghausen syndrome. NF1 is usually is a fairly benign condition but occasionally can cause more serious complications most of which can be effectively treated especially if detected promptly. For more information about Neurofibromatosis Type 1 click here.    

Newly Diagnosised with NF1 a guide to the basics

Support Guides

Useful Websites

The Children's Tumour Foundation website is really user friendly and has some great information about NF and management.

The Neurofoundation website has several informative fact sheets for all sorts of situations and purposes. Click below for fact sheets regarding different areas:

Learning and Behaviour in NF1

Support Groups

Neurofibromatosis Type 1 Group

Supporting people with Neurofibromatosis and their families/whanau/caregivers - and any one else interested. Search Neurofibromatosis New Zealand Support on Facebook.

Q&A: Here is where we answer some of our members questions. If you have any questions please email them to [email protected] and we will endeavour to answer them.