Café au lait marks and Neurofibromatosis.

For this post I would like to raise awareness of a genetic condition called Neurofibromatosis and the significance of Café au lait (CAL) marks in its diagnosis. I will be including the role that health visitors can play in recognising Café au lait marks and the importance of correctly documenting them.

What is Neurofibromatosis?

One in 2,500 people have Neurofibromatosis 1 (NF1) with 25,000 living with NF1 in the UK. There is a 50% chance of passing NF1 onto a child, however it is not always passed on and can occur by itself due to a mutation in the NF1 gene. Neurofibromatosis happens all over the world and can affect both men and women, it is a genetic condition with an estimated birth incidence of around 1/1,700 births. NF1 is characterised by being a tumour prone condition with the risk of developing a number of complications such as:

  • Learning and behavioural difficulties
  • Pain
  • Cancer
  • Tumours on the nerves
  • Inattention Distractibility Impulsivity
  • Physical disabilities
  • Speech and language problems
  • Psychological problems
  • Social communication difficulties
  • Coordination difficulties.

Unfortunately despite NF1 being common many GP’s, Midwives, Health visitors and paediatricians have limited awareness of the condition which results in missed or delayed diagnosis.

How can health visitors help?

So last year I was contact by a lady called Vanessa Martin the founder and trustee at the Childhood Tumour Trust asking for some information from a health visitor perspective. From then on I have been very interested in this topic and in spreading information to others, I even went as far as speaking in front of a room of other health visitors! Now for those who know me understand my hate of doing such a thing, but it was worth it to get information out to others.

Health visitors document birth marks on a regular basis as part of our job and are very well placed for doing this. However, in relation to NF1 correctly identifying a certain type of birthmark know as a Café au lait is especially important, as having 6 or more CALs can indicate the possibility of having NF1. In 95% of cases where 6 0r more CALs are observed in a child under 5 years old will have NF1. Other criteria for having NF1 includes:

  • 2 or more neurofibromas of any type of 1 plexiform neurofibroma
  • Freckling in the axillary or inguinal region
  • Optic glioma2 or more Lisch nodules
  • Bone defects, such as bowing of the lower leg
  • Family history of NF1

NF1 also increases the likelihood of other complications including a variety of learning and behavioural conditions including ASD and ADHD. With timely diagnosis of NF1 these can be monitored and support given at an earlier time point. This is an area which health visitors can support families with and we can assist with putting in help for families where needed.

If you too are now interested in this topic, wish to support and inform others, then please help in promoting the Childhood Tumour Trust Count the CALs campaign


The Childhood Tumour Trust feel that health visitors can play a massive role in the diagnosis of NF1 by identifying CALs correctly, documenting them as such in the red book and referring to GP’s for genetic testing when required. Café au lait are hyper pigmented birthmarks as opposed to other birth marks which are vascular and described as being even, tan to dark brown (coffee coloured), they can be any size and located anywhere except the palms, soles and scalp. They are not always present at birth so are more likely to be identified by health visitors and GP’s other than midwives. In babies and young children diagnosis may not be possible initially and may not be made until a second feature arise, therefore by documenting CALs correctly when spotted can help for future diagnosis when a second feature arises.

Further information

Please read the links for more information on this topic.


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