20/07/2026 08:33 AM

Cafe-Au-Lait Spots: Harmless Birthmarks Or Sign Of Underlying Condition?

Some parents may notice brown patches, known as café-au-lait macules, on their child’s skin but pay little attention to them, assuming they are merely birthmarks. This is especially true when the child does not complain of pain, itchiness or any discomfort.

Café-au-lait is French for “coffee with milk”, referring to the patches’ characteristic light to dark brown colour and flat appearance on the skin.

While these patches are generally harmless when they appear alone, experts caution that multiple café-au-lait macules may be associated with certain underlying conditions.

 

VARIATIONS IN SKIN PIGMENTATION

Consultant dermatologist at ParkCity Medical Centre here Dr Nor Azila Mohamed Akil said café-au-lait macules are hyperpigmented patches caused by changes in the production of melanin, the pigment responsible for skin colour. Their shade may range from light brown to dark brown, depending on an individual’s skin tone.

“Usually, these patches can be present at birth or appear during early childhood. In some cases, parents only notice them as the child grows older or after exposure to sunlight, which can make the patches more visible,” she told Bernama.


Tompok café-au-lait ialah tompok hiperpigmentasi yang berlaku akibat perubahan pada penghasilan pigmen melanin kulit. Kredit gambar The Clifford Clinic.

She said having one or two café-au-lait macules is not uncommon and, in most cases, they are simply a variation in skin pigmentation that does not cause pain, itching or other health problems.

“Therefore, when parents discover such patches on their child’s skin, they should not immediately assume they are a sign of disease. What is more important is to look at the overall pattern of the patches rather than the presence of a single spot,” she said.

However, not every brown patch on the skin is a café-au-lait macule. Several other skin conditions may appear similar, including congenital melanocytic nevus, a birthmark caused by an overgrowth of pigment-producing skin cells.

Dr Nor Azila added that a doctor’s examination is important to accurately identify the type of patch, advising parents against making their own diagnosis based solely on information found on the Internet or social media.

 

WHEN SHOULD PARENTS BE CONCERNED?

Dr Nor Azila said the doctor’s focus is not solely on the presence of these patches but also on their number, size and whether they are accompanied by other clinical signs.

“When the number of patches increases and they meet certain criteria, we will begin considering whether the condition could be associated with a genetic disorder such as neurofibromatosis type 1 (NF1). However, café-au-lait macules alone are insufficient to make a diagnosis. They must be assessed together with other clinical features,” she said.


Ia juga boleh membawa risiko kemunculan ketulan atau benjolan di bawah permukaan kulit yang dikenali sebagai neurofibroma. Kredit gambar laman web ResearchGate.

NF1 is a progressive genetic disorder inherited in an autosomal dominant manner, meaning it can be passed down from either parent. However, some cases occur de novo, where the gene mutation develops for the first time despite no family history of the condition.

In clinical practice, doctors pay closer attention when a child has six or more café-au-lait macules measuring more than five millimetres before puberty, or more than 15 millimetres after puberty, as this may raise suspicion of NF1.

Based on her clinical experience, Dr Nor Azila said some NF1 patients do not seek medical attention even after noticing the presence of café-au-lait macules. Some only come forward after developing other symptoms linked to the condition, including the appearance of lumps or growths beneath the skin known as neurofibromas.

“However, it is important to understand that having neurofibromas does not necessarily mean a person has NF1 as these growths can occur on their own. Those diagnosed with NF1 commonly develop multiple neurofibromas on the skin or within the body as they grow older,” she explained.

(Neurofibromas are non-cancerous tumours that develop beneath the skin and are generally harmless.)

Apart from neurofibromas, NF1 may also be associated with other complications such as scoliosis, impaired physical growth, learning difficulties, high blood pressure and vision problems. However, Dr Nor Azila stressed that not all children with café-au-lait macules will develop these conditions.

She advised parents to seek medical evaluation if the patches show suspicious changes or are accompanied by other symptoms, allowing further assessment to be carried out at an early stage.

To facilitate monitoring, she recommended that parents take photographs of the patches regularly, placing a ruler beside them as a size reference, and keep records of any change over time.

Such records can help doctors determine whether there have been changes in size or shape or new patches have appeared during follow-up examinations.

 

REGULAR MONITORING

Consultant paediatrician at Tawakkal Specialist Hospital Kuala Lumpur Dr Faisal Mohd Fadzli also stressed the importance of parents monitoring the development of these patches to assist doctors in making an accurate diagnosis.

“Doctors cannot determine whether a patch is merely a birthmark or a symptom of a disease without a comprehensive examination. The assessment is not limited to the skin patches alone but also includes the child’s development, family medical history, eye examination, bone assessment, blood pressure monitoring and other related clinical signs,” he said when contacted by Bernama.

He said information gathered through such assessments would help doctors decide the next step, whether the child only requires regular monitoring or should be referred to other specialists for further evaluation.

“After the first visit, doctors will usually recommend follow-up examinations because some signs may become more apparent as the child grows older.

“During this period, follow-up assessments are generally carried out every six to 12 months, depending on the child’s age and the level of clinical suspicion,” he said.

He added that during this period, parents should observe changes in their child’s overall health, not just the skin patches.

Other signs requiring attention include vision problems such as squinting, blurred vision or bulging eyes, recurring or worsening headaches, and repeated vomiting without an obvious cause.

“Although these symptoms do not necessarily indicate NF1, when they occur together with multiple café-au-lait macules, doctors will assess the situation more seriously,” he said.

Dr Faisal also addressed a common misconception among parents that removing café-au-lait macules through laser treatment can eliminate the risk of diseases associated with the condition.

“Cosmetic treatment may only reduce or alter the appearance of the patches on the skin surface, but it does not change the underlying genetic condition if it exists. Therefore, clinical evaluation and monitoring should continue according to medical advice,” he said.

As a guide for parents, he said children with only one or two café-au-lait macules who are growing normally and show no other symptoms generally do not require urgent medical assessment.

However, parents are encouraged to inform their doctors about the patches during routine health check-ups so that any change can be monitored over time.

“The most important thing is for parents to remain alert to changes in their child’s skin or health and seek early medical advice if there are concerning signs. In most cases, café-au-lait macules are not something to worry about and that is the key message we want to convey,” he said.

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