Cafe-au-Lait Macules (Cafe-au-Lait Spots)

What cafe-au-lait macules are

A macule is a flat spot that you can see but not feel. Cafe-au-lait macules (CALMs) are oval or round patches of even tan or light-brown color, usually 0.5 to 5 cm across but sometimes much larger. They contain more melanin pigment than surrounding skin, though the number of pigment cells is normal.

They are often present at birth or appear in the first 2 years of life. On darker skin they may look darker brown. They can be anywhere except the palms and soles, and the trunk and buttocks are common sites.

Unlike moles, they are not raised and do not contain clusters of nevus cells. Unlike freckling, they do not darken markedly in summer and fade in winter.

How many cafe-au-lait spots is normal?

Isolated spots are very common in all ethnic groups and are more frequent in people with darker skin. One or two spots in an otherwise healthy child with normal development are almost always harmless.

The concern rises with the number:

Conditions linked to cafe-au-lait spots

Neurofibromatosis type 1 (NF1)

The best-known association. Neurofibromatosis type 1 is a genetic condition affecting about 1 in 3,000 people. Six or more cafe-au-lait spots are seen in most children with NF1 by the age of 2. Other features that appear over time include:

• Freckling in the armpits or groin (often by age 3 to 5)
• Neurofibromas: soft, benign nerve-sheath lumps on or under the skin, usually from the teen years
• Lisch nodules: harmless tan spots on the iris
• Optic pathway glioma, a slow-growing tumor on the optic nerve in some young children
• Bone changes such as bowing of the lower leg or scoliosis
• Learning and attention difficulties

A diagnosis of NF1 needs two or more of the official criteria, or one criterion plus a parent with NF1. Genetic testing of the NF1 gene can confirm it.

Legius syndrome

Legius syndrome causes multiple cafe-au-lait spots and armpit freckling but no neurofibromas or tumors. It can look identical to early NF1 in a young child, and genetic testing (SPRED1 gene) tells them apart.

McCune-Albright syndrome

In McCune-Albright syndrome, the spots are usually few, large and on one side of the body, stopping at the midline. Their edges are jagged, like the coast of Maine, rather than smooth like NF1 spots. The syndrome also causes fibrous dysplasia of bone and early puberty.

Other genetic conditions

Several spots can also occur in tuberous sclerosis (which more typically causes pale patches), Noonan syndrome, constitutional mismatch repair deficiency and some other rare syndromes. A doctor considers these when other features are present.

Do cafe-au-lait macules get bigger with age?

Yes, in proportion. A spot present at birth usually grows as the child grows, keeping roughly the same relative size. New spots may appear during early childhood, which is common in NF1. In adulthood the spots tend to stay stable and may fade slightly or become harder to see. Spots do not become cancerous.

A spot that changes shape, becomes raised, develops several colors or bleeds is not behaving like a cafe-au-lait macule and should be checked by a dermatologist.

How cafe-au-lait spots are assessed

A pediatrician or dermatologist will:

1. Count and measure the spots, often using a Wood's lamp (ultraviolet light) to see faint ones
2. Look for freckling in skin folds, skin lumps and other birthmarks
3. Check growth, head size, blood pressure, spine and development
4. Ask about family history of spots, lumps or NF1
5. Arrange an eye exam if NF1 is suspected

Children with 6 or more spots but no other features are usually followed every year, because most NF1 signs appear by age 8. Genetic testing can give a diagnosis earlier.

Treatment

Isolated cafe-au-lait spots need no treatment. For cosmetic concerns, options include:

• Laser treatment (Q-switched or picosecond lasers): can lighten spots, but results vary and spots often come back
• Cosmetic camouflage makeup
• Sun protection: sunscreen makes spots less noticeable against tanned skin

When spots are part of NF1 or another syndrome, care focuses on regular monitoring by a multidisciplinary team rather than the spots themselves.

Frequently asked questions

Are cafe-au-lait spots dangerous?

No. The spots themselves are harmless and do not turn into skin cancer. Their importance is as a possible marker of a genetic condition. One or two spots are a common normal finding, while six or more large spots suggest NF1 and need a doctor's review.

Do cafe-au-lait macules get bigger with age?

They grow as the body grows, so a spot on a baby will be larger on the same child at age 10. New spots can appear in the first years of life. In adults, spots usually stay the same and may fade slightly.

Can adults get new cafe-au-lait spots?

It is uncommon. Most appear by early childhood. A new flat brown patch in an adult is more often a sun-related spot, a lentigo or post-inflammatory darkening. Any new or changing pigmented spot in an adult is worth showing to a dermatologist.

Does one cafe-au-lait spot mean neurofibromatosis?

No. A single spot is found in many healthy people. NF1 is suggested by six or more spots of the right size, usually together with freckling in the armpits or groin or other signs. Your child's doctor can check for these.

Can cafe-au-lait spots be removed?

They can be lightened with laser treatment, but results are unpredictable and the color often returns. Several sessions may be needed. Because they are harmless, removal is purely cosmetic and is often not covered by insurance.