16th February 2026
Spot the Signs: Ten Years On – Why Café-au-Lait Marks Still Hold the Key to Early NF1 Identification
On 16 February, Childhood Tumour Trust (CTT) marks ten years of raising awareness of Neurofibromatosis Type 1 (NF1) and supporting families affected by this lifelong genetic condition. We are delighted to share this Voices blog by Vanessa Martin, Founder and CEO of Childhood Tumour Trust, reflecting on progress made – and on why early identification remains as important as ever.
For many children with NF1, café-au-lait marks are the earliest and most visible sign, yet they are still too often overlooked or dismissed. Crucially, these signs often appear long before any serious or complex symptoms of NF1 present.
A Parent’s Perspective
When my daughter Nicole was born, she had several café-au-lait marks. Like many parents, we were reassured they were “just birthmarks.” What we didn’t know — and what too many families still don’t know — is that multiple café-au-lait marks can be a key early indicator of NF1.
No one counted them.
No one documented them.
No one explained their potential significance.
As Nicole grew, developmental concerns emerged, including delayed speech and social communication difficulties. Yet these were not connected to the marks on her skin. It was only at her three-year review, when a paediatrician carefully examined and counted the café-au-lait marks, that NF1 was first raised.
That moment — familiar to many families — marked the beginning of an anxious journey characterised by uncertainty, information-seeking, and isolation. It also highlighted how crucial early observation and documentation can be.
Why Café-au-Lait Marks Matter in Health Visiting Practice
Health Visitors are uniquely placed to recognise the early signs of NF1. They are often one of the only professionals who regularly see babies and young children who are otherwise healthy and developing well. In NF1, café-au-lait marks and freckling frequently present months or even years before more serious symptoms emerge — making early observation essential.
Café-au-lait marks are present in many children, but six or more patches over 5mm in a young child should prompt monitoring, documentation, and consideration of referral. Health Visitors are ideally positioned to notice these patterns during routine reviews, developmental assessments, and conversations with parents.
Early recognition can:
- support timely referral and surveillance
- enable earlier educational and developmental support
- reduce parental anxiety through clear communication
- prevent years of uncertainty and delayed diagnosis
As we often say at CTT:
When we buy a car, we check for dents and scratches. So why don’t we check a baby or child just as carefully?
Sometimes the smallest marks can hide the biggest problems.
Body Mapping: Learning From iHV Leadership
Following attendance at the iHV Leadership Conference, we were encouraged by the strong interest in the use of Body Maps. While their role in recognising NF1 still requires greater consistency and confidence, it was particularly positive to see how widely Body Maps are being used to record all skin markings, including Mongolian blue spots, and as part of safeguarding practice.
Body Maps support professional curiosity, provide a clear longitudinal record, and ensure observations are not lost over time. Just as importantly, they validate parental concerns and demonstrate that what is being observed matters.
Practical tools to support this already exist
Through the Health for all children website, professionals and parents can download a Body Map and an NF1 insert for the Personal Child Health Record (Red Book). These resources support the recording of café-au-lait marks, freckling, and other skin findings over time, ensuring early signs are documented consistently and travel with the child across services.
Ten Years On
Today, Nicole lives independently and has achieved a degree in Design Engineering. Her journey demonstrates what is possible with the right support — and why earlier identification could make such a difference for future children.
Vanessa Martin, with her daughter Nicole
To health visitors: you are often the first professionals able to spot the signs — particularly in children who appear otherwise healthy. Your careful observation, documentation, and willingness to question can change outcomes and prevent families from feeling alone.
Ten years on, Spot the Signs remains as relevant as ever. Thank you for the vital role you play in early identification, safeguarding, and family support.
