Identifying café au lait spots

06 June 2018

How can you identify café au lait spots (CALs) and support parents of children with neurofibromatosis type 1? Health visitor Leah Sweeney explains.

Counting the Cals

Body mapping birthmarks

Accurate documentation of birthmarks and other marks on the skin is important, but not only for safeguarding children – some birthmarks can also have medical implications. Health visitors may identify birthmarks during physical examinations, developmental reviews and during the weighing of infants. All types of birthmarks should be documented, including those in Common birthmarks in children (overleaf).

Health visitors, midwives, GPs and practice nurses all use the Personal child health record, more commonly known as the ‘red book’, to record specific information on a baby or child. Not all red books include a body-map page as standard, although some are added discretionarily by commissioning health bodies. As reported in April’s Community Practitioner, families in East Sussex were the first to receive new versions of the red book with the page inserted.  

Ensuring the body map is inserted as a core page across the UK will allow for universal, accurate recording of all birthmarks.


Café au lait spots

Café au lait spots (CALs) are hyperpigmented birthmarks, in contrast to other vascular birthmarks. They are described as being even, tan to dark brown (coffee coloured), and can be any size and located anywhere except the palms, soles and scalp. They can be an indicator of autosomal dominant multisystem disorder neurofibromatosis type 1 (NF1), especially if there is no family history of the condition (Ferner, 2007).

Multiple CALs are present on 95% of those with NF1 (Korf, 1992). They are sometimes misdiagnosed and documented as birthmarks or bruises, or not documented appropriately because of the absence of body maps from the red book. Wrongly recording CALs may lead to late diagnosis of NF1.


Common Birthmarks in Children

Mongolian Blue Spot
Mongolian blue spots
Capillary Haemangioma
Haemangioma ('Strawberry Mark') 

Salmon patches, also known as stork marks or angel kisses


Port wine stains

Cafe au lait spot
Cafe au lait spots or macules


CALs may be identified more by health visitors and GPs than midwives as the marks are not necessarily present at birth (Madson, 2012). They usually develop any time up to the age of two (Hirbe and Gutmann, 2014) and are often the earliest clinical presentation of NF1. Health visitors and other professionals must be vigilant in identifying and documenting any new CALs that appear during this time. If health professionals observe six or more CALs then they must consider the possibility of NF1, but a confident diagnosis of NF1 requires a second symptom. For example, a child with NF1 typically develops axillary and inguinal freckling as a second clinical presentation and is usually detected between five and eight years (Hirbe and Gutmann, 2014). In 15% of cases, children may also present with complications from optic pathway gliomas, which can cause reduced vision (Ferner and Gutmann, 2013).

A debate in the House of Lords on NF1 considered the evidence of Vanessa Martin, the mother of a child with NF1 (House of Lords, 2015). When Vanessa’s three-year-old daughter was diagnosed with NF1, she had little support from health visitors, who knew very little about the condition. A gap in professional knowledge due to lack of training around birthmarks makes it possible that many professionals may be documenting CALs incorrectly as a general birthmark. Specific training on different types of birthmarks and CALs would, therefore, be beneficial for health professionals, especially health visitors, in order to correctly identify the various types of birthmarks seen on babies and children.  


What is Neurofibromatosis?

There are two types of neurofibromatosis: NF1 and NF2. NF1 is more common and occurs in around 1 in 2500 to 1 in 3000 people (Ferner et al, 2007). Half of the cases are inherited from parents, and half are caused by sporadic de novo heterozygous mutation of the NF1 gene at chromosome 17q11.2 (Hirbe and Gutmann, 2014). Neurofibromatosis affects all ethnic groups and both sexes equally. It is hard to predict the severity of the disease because its course is extremely variable (Evans, 2011), and it is a progressive condition for which there is no cure (Ferner et al, 2007). Before and during pregnancy, parents can be offered genetic counselling to discuss options available to them. Amniocentesis and chorionic villus sampling are available, but cannot determine the future severity of the condition.

NF1 is far from a household name, but it is thought to be among the most common single genetic disorders, with a prevalence in the UK of more than 25,000 (Neuro Foundation, 2018). To put this in perspective, every day in the UK one child is born with NF1 (Evans, 2011).

The condition is characterised by the growth of tumours on nerve endings and a whole host of additional complications. It affects numerous organ systems, including the skin, eyes, bones, blood vessels and central and peripheral nervous systems, as well as causing other complications. 


Living with NF1

People with NF1 often experience the following:

  • Learning and behavioural difficulties
  • Tumours growing on the nerves inside the body and on the skin
  • Inattention, distractibility and impulsivity
  • Physical disabilities
  • Pain and itching
  • Cancer
  • Social communication difficulties (eg autism)
  • Epilepsy
  • Dyspraxia
  • High blood pressure
  • Speech and language problems
  • Psychological problems
  • Bone abnormalities

Ferner et al, 2007; Huson et al, 1989


Supporting families

The panel Living with NF1 (left) shows some of the complications that are associated with NF1. There is no cure for NF1, so regular monitoring is required, and some complications of NF1 have to be treated with surgery, medication or therapy to lessen the impact on various body systems. NF1 often requires management through a multidisciplinary approach to benefit the individual (Tadini et al, 2014).

It is also important to remember that NF1 is multi-faceted: in addition to tumours growing along nerves, there are emotional, psychological, learning, behavioural, communication and physical symptoms that make the condition both complex and diverse (Graf et al, 2006).

Around 50% of children with NF1 will have a learning difficulty and 30% to 50% meet the diagnostic criteria for attention deficit hyperactivity disorder (ADHD) (Coutinho et al, 2016). Therefore, parents may require some educating on the possibility of a child having cognitive impairment and how this may affect their development (Korf, 2013).

Health visitors can help support parents of children with NF1 in a number of ways to achieve the best for these children and families. As discussed earlier, the most important factor is correctly identifying CALs and documenting these accurately in the child’s red book, remembering that more CALs may develop up to the age of two. It is important, as with any mark observed on a child, to discuss with the parents why birthmarks are documented. Doing so may prevent parents from being questioned over a birthmark or CAL and possibly being accused of child abuse.

When identifying six or more CALs, a health visitor may then need to refer the child to a GP for further testing, but a second symptom may also need to develop to obtain a referral.

Parents of children with NF1 may also require additional support for behaviour and development, as around half of children can have a delay in development, behavioural problems, learning difficulties, ADHD, speech problems and sleep disturbances (Ferner and Gutmann, 2013). Health visitors offer regular support to parents in these areas and may be able to give additional assistance to families through Universal Plus services and possibly through offering the family a common assessment framework. This would establish the required help for the family and allow health professionals and parents to meet regularly to ensure that the child and family’s needs are met.

Vitamin D levels can also be affected in individuals with NF1, and health visitors can discuss dietary needs with parents and ensure that children have access to vitamin supplements as required.



NF1 is unpredictable, progressive and life-long; it can be hard to live with, both for the individual and for their friends and family. Life can, however, be improved for those with NF1. The Childhood Tumour Trust is a charity that helps to do just that, aiming to pull children and young people with NF1 from their isolation, improve their self-esteem and give them coping strategies.

The way forward is through earlier diagnosis and increasing awareness of NF1, and through better recognition and documentation of CALs in the red book: this is eminently achievable. However, more support is required, both medically and socially for people with NF1 and their carers. 

Leah Sweeney is a health visitor at Nottingham CityCare. 


Picture Credit | Alarmy/ Getty/ Shutterstock/ Science Photo Libary


Further resources



Childhood Tumour Trust. (2018) Neurofibromatosis. See: childhoodtumourtrust.org.uk (accessed 14 May 2018).

Coutinho V, Kemlin I, Dorison N, Billette de Villemeur T, Rodriguez D. and Dellatolas G. (2016) Neuropsychological evaluation and parental assessment of behavioural and motor difficulties in children with neurofibromatosis type 1. Research in Developmental Disabilities 48: 220-30.

Evans D. (2011) Medical management of neurofibromatosis. Paediatrics and Child Health 21(10): 459-65.

Ferner RE, Huson SM, Thomas N, Moss C, Willshaw H, Evans DG, Upadhyaya M, Towers R, Gleeson M, Steiger C, Kirby A. (2007) Guidelines for the diagnosis and management of individuals with neurofibromatosis 1. Journal of Medical Genetics 44: 81-8.

Ferner RE. (2007) Neurofibromatosis 1 and neurofibromatosis 2: a twenty-first century perspective. The Lancet Neurology 6(4): 340-51.

Ferner RE, Gutmann DH. (2013) Neurofibromatosis type 1 (NF1): diagnosis and management. Handbook of Clinical Neurology 115: 939-55.

Graf A, Landolt MA, Mori AC, Boltshauser E. (2006) Quality of life and psychological adjustment in children and adolescents with neurofibromatosis type 1. Journal of Paediatrics 149(3): 348-53.

Hirbe A, Gutmann D. (2014) Neurofibromatosis type 1: a multidisciplinary approach to care. The Lancet Neurology 13(8): 834-43.

House of Lords debate. (15 January 2015) vol 758 col 173. See: hansard.parliament.uk/Lords/2015-01-13/debates/15011359000206/HealthNeurofibromatosisType1 (accessed 14 May 2018).

Huson SM, Compston DAS, Harper PS. (1989). A genetic study of von Recklinghausen neurofibromatosis in south east Wales. II: Guidelines for genetic counselling. Journal of Medical Genetics 26: 712-21.

Korf BR. (2013) Neurofibromatosis. Handbook of Clinical Neurology 111: 333-40.

Korf BR. (1992) Diagnostic outcome in children with multiple café au lait spots. Pediatrics 90(6): 924–7.

Madson JG. (2012) Multiple or familial café-au-lait spots is neurofibromatosis type 6: clarification of a diagnosis. Dermatology Online Journal 18(5): 4.

Neuro Foundation. (2018). What is neurofibromatosis? See: nfauk.org (accessed 14 May 2018).

NHS Choices. (2018) Neurofibromatosis type 1. See: nhs.uk/conditions/neurofibromatosis-type-1 (accessed 14 May 2018).

Tadini G, Milani D, Menni F, Pezzani L, Sabatini C, Esposito S. (2014) Is it time to change the neurofibromatosis 1 diagnostic criteria? European Journal of Internal Medicine 25(6): 506-10.

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