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Cafe Au Lait Spots and Diagnosis of NF1

The following is a blog by Dr. Luiz Rodrigues . Originally posted in Portuguese on May 7, 2017. Additions and translation were provided by Dr. Mata-Machado from the NF Clinic at Amita Health/St. Alexis.

When a child has two or more criteria for the diagnosis of neurofibromatosis type 1 (NF1), we are almost certain that she has the disorder. For example, 6 or more cafe au lait spots (CALMS) and freckles in the armpits, or 6 or more CALMS and Lisch Nodes on their iris, or 6 or CALMS and a plexiform neurofibroma.

However, when the child has only cafe au lait spots, we need to carefully examine the characteristics of the spots to find out if they are the spots typically found in NF1 or if they are atypical spots, that is, they are not associated with NF1.

First question: How to characterize the Café-au-lait spots(CALM)?
Typical NF1 CALMS are oval, with well-defined limits and uniform color similar to “coffee with milk” and located mainly in the trunk, forming isolated islands. Atypical spots, which are not ordinary for NF1, usually have very variable shapes, their boundaries are poorly defined and can be found anywhere on the body, forming irregularly contoured islands (see figure).

We can also look at the size of the spots. The diagnostic criterion for NF1 requires that typical CALMS be more than half a centimeter in childhood and more than 1 cm from adolescence. Therefore, it is necessary to distinguish CALMS from the freckles, which are located in places where the sun does not touch, such as the armpits and groin and they are a second criterion for the diagnosis of NF1.

Second question: How many CALMs are typical?
There is a direct relationship between the number of typical spots in the first year of life and the chance of other NF1 signs appearing in subsequent years, as shown in a scientific study by Nunley and colleagues published in 2009 (see here www.jamanetwork.com/journals/jamadermatology/fullarticle/712161 ). The researchers found that a child with 6 typical spots in the first year of life has a 40% chance of presenting other NF1 signs within the next five years. However, a child with 9 or more typical spots in the first year of life has a 100% chance of having another NF1 sign in the next 5 years of life.

In other words, a large proportion (75%) of children with 6 or more typical CALMS will have their diagnosis of NF1 confirmed by age 6 and for the vast majority (92%) NF1 will be confirmed by age 10 of age.

On the other hand, none of the children presented a diagnosis of NF1 when they had only 1 to 5 CALMS during the study period. In addition, only 5% of the children with atypical spots had NF1 throughout the study.

In summary, up to 3 typical spots, there is probably no associated disorder; 3 to 5 spots, we may think of other disorders; 6 or more stains, act as if it were NF1.

Third question: Should we do the genetic test in a small child when it only presents only CALMS?

This is a frequent question in our clinic because we would all like to know immediately the definitive diagnosis so that we can act accordingly. However, I always evaluate with parents the following: Will the genetic test result change our behavior?

If the test is positive for NF1, our behavior will be to observe the child, and observe for other NF1 elements as the child ages.

If the result of the genetic test for NF1 is negative, our behavior will be to observe the child, who must lead a normal life and reassess clinically each year if there is no news.

Now in this respect the test would not change our conduct.

On the other hand, if the test comes negative we have to think about other disorderss that can also cause brown spots with milk (although in most of these other disorders the spots are usually atypical). Legius syndrome, Albright Osteodystrophy, Mastocytosis. Also, some forms of NF1 have very few CALMs (Huson, et al.)

Summary: So we came to the question…what other conditions that can cause CALMS?

First, there are the isolated CALMS that are found in 10% of healthy people. There is also a form of CALM in which several members of a family have a spot, without this being a sign of the disorder. Finally, it is possible that parent great skin color differences could lead to atypical CALM in their children.

On the other hand, there is a relatively large group of disorderss that can cause CALM, usually less than 6 spots and atypical: Neurofibromatosis type 2, Schwannomatosis, Legius Syndrome, Noonan Syndrome, Albright Osteodystrophy.

The differentiation between each of these disorders requires a professional with clinical experience in NF1 and various rare disorders and a summary of their characteristics can be found in our article published in 2013 (see here https://www.ncbi.nlm.nih.gov/pubmed/24676443).

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Comments (11)

    • Good question. I don’t THINK this has ever been researched or answered as cafe aulait spots are harmless. I have two children with NF1 and I don’t recall any more showing up past the age of eight or so, but I really wasn’t counting or paying too much attention to that. If you find an answer somewhere, please let us know!

      • Hi. My 8 week old has seven cafe-au-lait spots. The pediatrician didn’t seem concerned. I am. Only three are big and same size and the rest are small . ANY ADVISE?

        • Chelsea, It’s easy to understand your concern. Although we aren’t doctors, it seems likely with that many café-au-lait spots, your child may indeed have NF Type 1. I will be emailing you privately to see how we can help.

      • Diana – did your children have complications as infants/toddlers as a result of NF1? Everything seems so unpredictable with it. Our pediatrician found 3 typical / & location CALMS at birth not sure how much we should have this worked up. Not sure About the wait and see approach.

  • My son is 15 weeks and has 1 confirmed CALS. Since that appointment in Jan. He appears to have gotten 18 more. Almost all of them are larger than 5mm and at least 6 are quarter size. He has them on his stomach, back, and legs. I havent noticed any freckles yet. Waiting to hear from dermatologist but my gut is telling me NF1. Thoughts?

    • Sarah,
      My thoughts would be that with that many CALS, it’s very likely that your little guy may in fact have NF1. It will probably be difficult for the dermatologist to make a clinical diagnosis unless your guy is presenting at least one of the other diagnostic criteria. I will email you to see how we can help.

  • My son is 2, and has one spot that is about the size of a dime., 1 spot that is about half that size, and 3 tiny (we probably wouldn’t have even noticed without the others) spots. He is fair skinned with red hair. What would your thoughts be on this? Nobody in our family (that anyone knows of) has NF.

    • Cali,
      Thank you for your question. I really think that you will want talk with your pediatrician about the spots. It sounds like 2 of the spots meet the measurement criteria for a cafe au lait spot, but the diagnostic criteria for NF1 is 6 or more café au lait spots larger that .5 cm in children. I know it can be frustrating to take a wait-and-see approach especially with a little baby. Hopefully, it isn’t related to NF at all, but don’t be afraid to bring it up with his doctor. If you do get a diagnosis of NF, please let us know. Hoping for the best for your family!

    • Adriana,
      I don’t think that it is particularly unusual, yet it depends on the number of spots and their size. I think one of the great takeaways from this article is if there are up to 3 typical spots, there is probably no associated disorder; 3 to 5 spots, we may think of other disorders; 6 or more stains, act as if it were NF1. Depending on the number, you will probably want to go over your concerns with your primary care physician.

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