If you're worried about your baby's health, don't hesitate to see your pediatrician.Photo by Dreamstine.com
By Sue Hubbard, M.D.
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 her infant's arm, leg and back.
These “caramel colored” flat spots are called cafe au lait macules (CALMs) and are relatively common. They occur in up to 3 percent of infants and about 25 percent of children, in both males and females, and are more common in children of color. While children may have a few CALMs, more than three CALMs are found in only 0.2 to 0.3 percent 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 for a doctor to make the suspected diagnosis of NF-1, a child needs to have six or more cafe au lait spots before puberty, and most will present by 6 to 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. “Watch and wait” is a hard prescription for a parents, but unfortunately that is often what parenting is about.
NF-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 has no known family history. NF-1 may also be associated with neurocognitive deficits; of course, this causes a great deal of parental concern. About 40 percent 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 the child be seen by an ophthalmologist and a dermatologist yearly, as well as being followed by his or her pediatrician. If criteria for NF-1 is not met by the time a child is 10 years of age, it is less likely that child will be affected, despite having more than six CALMs.
The biggest issue is truly the parental anxiety of watching for more cafe au lait spots and trying to remain calm. It's easier said than done for anyone who is a parent.
Dr. Sue Hubbard is an award-winning pediatrician, medical editor and media host. “The Kid's Doctor” TV feature can be seen on more than 90 stations across the U.S. Submit questions at http://www.kidsdr.com. The Kid's Doctor e-book, “Tattoos to Texting: Parenting Today's Teen,” is now available from Amazon and other e-book vendors.
Printed in the November 27 – December 10, 2016 edition.
