I was examining a 4 month old baby the other day when I noticed that she had several light brown spots on her skin. When I asked the mother how long they had been there, she noted that she had started seeing them in the last month or so, or maybe a couple even before that. She then started to point a few out to me on both her infant’s arm, leg and on her back.
These “caramel colored” flat spots are called cafe au lait macules, (CALMs) and are relatively common. They occur in up to 3% of infants and about 25% of children. They occur in both males and females and are more common in children of color. While children may have a few CALMs, more than 3 CALMS are found in only 0.2 to 0.3% of children who otherwise do not have any evidence of an underlying disorder.
Of course this mother had googled brown spots in a baby and was worried that her baby had neurofibromatosis (NF). She started pointing out every little speckle or spot on her precious blue eyed daughter’s skin, some of which I couldn’t even see with my glasses on. I knew she was concerned and I had to quickly remember some of the findings of NF type 1.
Cafe au lait spots in NF-1 occur randomly on the body and are anywhere from 5mm to 30 mm in diameter. They are brown in color and have a smooth border, referred to as “the coast of California”. In order to make the suspected diagnosis of NF-1 a child needs to have 6 or more cafe au lait spots before puberty, and most will present by 6 -8 years of age.
For children who present for a routine exam with several CALMs ( like this infant), the recommendation is simply to follow and look for the development of more cafe au lait macules. That is a hard prescription for a parents…watch and wait, but unfortunately that is often what parenting is about.
Neurofibromatosis - 1 is an autosomal disorder which involves a mutation on chromosome 17 and may affect numerous organ systems including not only skin, but eyes, bones, blood vessels and the nervous system. Half of patients inherit the mutation while another half have no known family history. NF-1 may also be associated with neurocognitive deficits and of course this causes a great deal of parental concern. About 40% of children with NF-1 will have a learning disability ( some minor, others more severe).
For a child who has multiple CALMs it is recommended that they be seen by an ophthalmologist and a dermatologist yearly, as well as being followed by their pediatrician. If criteria for NF-1 is not met by the time a child is 10 years of age, it is less likely that they will be affected, despite having more than 6 CALMs.
The biggest issue is truly the parental anxiety of watching for more cafe au lait spots and trying to remain CALM…easier said than done for anyone who is a parent.