Neurocutaneous Syndromes or Phakomatoses

Neurocutaneous syndromes, or phakomatoses, are conditions that affect the brain and the skin. These include:

• Neurofibromatosis Types 1 and 2

• Schwannomatosis

• Tuberous Sclerosis

• Von Hippel-Lindau Syndrome

What is Neurofibromatosis Type 1?

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 Friedrich Daniel von Recklinghausen first characterised the tumours in neurofibromas, which consist of a 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 (neurofibromas). NF1 is sometimes referred to as von Recklinghausen syndrome. NF1 is usually 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.

Support Guides

• Support for Teenagers

• Support for Adults

• Support for Parents

• Support for Teachers

• Support for Medics

• Support for Employers

Useful Websites

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

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

• The Doctor says you have Neurofibromatosis – easy read

• Neurofibromatosis Type 1 – A Guide for Adults and Families

• Segmental or Mosaic NF1

• The Child with Neurofibromatosis Type 1 (NF1) – a guide for parents

• The Child with NF1 – a guide for Health Care Professionals

• Talking with children about Neurofibromatosis

• Bone Changes in Neurofibromatosis Type 1

• Pain Management

Learning and Behaviour in NF1

• The child with NF1: behaviour difficulties

• Neurofibromatosis Type1: Information for teachers

• My child has NF1 – what should I tell the teacher?

• Developmental co-ordination Disorder – Dyspraxia

• Polly’s Best Friend – for girls under 10

• The Winning Goal – for boys under 10

Support Groups

Neurofibromatosis Type 1 Group

Supporting people with Neurofibromatosis and their families/whanau/caregivers – and anyone else interested. Search for Neurofibromatosis New Zealand Support on Facebook.