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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 (34)

    • 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.

  • Hello! Im a mother of 2 sons. My 2 year old is My oldest. I Also have a 3 month year old baby boy Who Was born with several café au lait spots on his body. 3 large Ones & 4 little ones. Stomach & back. Other than the spots he is healthy. I am persian and My husband is swedish. He has a café au lait spot on his leg and i have a café au lait spot on My chest. We have no diseases at all. Not even in the family what We know. But since My baby has so many Tiny café au lait spots on his body i started googling and now of course i am SUPER anxious and scared. Could it be nf1 or something i Googled called Legius Syndrome?! Very thankful for an answer!!

    • I’m sorry we missed your post from a while ago. You should ask a doctor about this. It does sound like you baby MAY have NF1…or Legius (but that is less common). Please keep us posted.

  • My 2.5 year old daughter has red hair and light skin. She has about 20 small cafe spots. Only 2 are larger than 0.5 cm. Also, they almost completely disappear in winter only to become more apparent during warmer months. No other symptoms and no family history. She saw a geneticist and he said it is presumed she has it until otherwise ruled out by time. He said I should consider an eye exam. But he didn’t even examine her. Looked at one spot on her arm. Am I in denial? I don’t think she has NF1. Should I be doing something more?

    • We’ve only heard of spots that are lighter then the skin on people with a darker complexion. Sorry, we don’t have answers for you.

  • 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.

  • Have you seen something that is the “opposite” of a
    Cafe au Lait spot? Meaning a very smooth white spot (skin is fair anyway but this spot is stark white) with dark brown freckles inside and a little bit of pink skin? On forehead above eye brow. Doctor confirmed there isn’t any pigment/cancer issue. Going
    To ophthalmologist next.

  • My son’s father has nf1. He is 11 years old and only has 1 spot that could be a CALM but it could be a freckle. He has no freckling of the armpit or groin BUT he has recently developed 2 tiny bumps on his tummy that feel like the bumps his father has. I have an appointment with a genetic counselor but it’s months away. My question is, can there be a diagnosis of nf1 without the presence of CALM?

    • Kristy,
      With your little guy’s dad having NF1, he already has one of the criteria for a clinical diagnosis according to the NIH guidelines. Here is the list of criteria:
      Six or more café-au-lait macules over 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals.
      Two or more neurofibromas of any type or one plexiform neurofibroma.
      Freckling in the axillary or inguinal region.
      Optic glioma
      Two or more Lisch nodules (iris hamartomas).
      A distinctive osseous lesion such as sphenoid dysplasia or thinning of long bone cortex with or without pseudarthrosis.
      A first-degree relative (parent, sibling, or offspring) with NF-1 by the above criteria.

      I know those appointments can seem so far away. Please let us know if there is anything else that we can help with.

      Take care-
      Andrea

  • A paediatrician briefly mentioned my sons CALS a few weeks ago. Says he definitely has 3 possibly 4. He has 2 other smaller ones but the dr won’t say if they are because they aren’t big enough. Will these grow into CALS – should I be treating them as if they are. I have also noticed a faint one on his backside. Do they start light and become darker? I am desperately trying to find answers and to determine if my son has NF1. We have no family history of NF1.

    • Jessica, It really depends on how old your son is. 3 to 4 CALS is not enough to officially diagnose him, but we’ve had doctors privately say that if a baby has 6 or more CALS it’s most likely NF1. They do often start out light or look sort of like a bruise. We know it’s hard but try to be patient and not worry. Worrying won’t help and IF you son has NF1 you’ll really need to train yourself to be patient and vigilant, but to also not invite worry.

  • Hi. We are not sure whether to worry about our 21 month old and some skin patches she’s developed in the last year and half.
    I’m very dark with Portugese background and my husband is fair with Irish background. There is no NF in either of our families as far as we are aware.
    Our daughter has medium/large a patch of darker pigment on her crotch area sort pubic bone a 1 or2 cm ( sort of uneven) with a single tiny 1-2 mm freckle just beneath it on her genitals. It looks like a birthmark and a small mole beneath it.
    She also has on small patch of hyperpigmentation on her bottom which initially I thought was irritation from nappy that darkened the skin, like contact dermatitis which she does suffered from. This patch is very irregular and not well defined. About 5mm.
    She looks like shes coming up with another patch on her thigh that I thought initially was a bruise that was fading but it hasn’t faded or changed in a while this is sort of moon shaped.
    She hasnt got any other features. Medium height and weight and head circumference, she has no developmental delays so far. How likely is it that we are looking at NF1 ? Or is this skin changed from the mixed background?
    Many thanks

    • We’re not doctors here, so we really can’t diagnose your child. You should talk to a physician. It does sound like she may have NF1 though.

  • My daughter just turned one 2 days ago, we went for the 12 months check up and vaccines and when I showed her pediatrician some cafe au lait spots she has she suspected NF1 and had some blood test ordered as well as referrals to Endocrinologist, Ophthalmologist and Audiologist! She has 5-6 spots 4 on her legs and 2 tiny ones on the side of her face. Non on her back or stomach or arms, no freckles also. I’m so worried, mainly because I don’t know what to expect if she has the syndrome! Before today I never even heard of the disease… oh one last thing she also has some pubic hair and that’s not normal her age so we’ll see… please any word of advice or support groups would be highly appreciated.

    • Salma, Where sorry to hear about your worries with your daughter. We’ll contact you to see how we might be able to help.

  • Hi, my daughter is 7 yrs and have been having many Café au Lait spots all over her body. We have been checking her eyes and so far no sign of the second symptom. I’m really worried if it’s NF1 or something else. Can I please know at what age can we confirm this? Also what can we do about it so she can live a normal life? Please reply. Thanks.

  • Hi Team,

    My daughter is 6 months old and her doctor recently brought up NF but said it was highly unlikely but after doing more research it does seem very likely… we have no history of it in the family but she has 5 CALS that I can find and one of them (along with some freckling) are in her armpit fold. She also has a mongolian spot on her lower spine, but not sure if they have any relation to this condition. Also, strangely she only has the freckles and CALS on her right side of the body, NONE of them cross the midline of the body. Does this sound like it could be NF?

    • It sounds like it COULD be NF. It may take patience to figure it out. If it is just on one side it could be segmental/mosaic NF1. Please, email us a and we can talk some more.

  • Hi, im a 26 years old women, i have those spots all over my body (from my chest to my back include my underarm)i know it sounds horrible… and i’m very upset… my parents said they were very small when i was a infant. But it has been this big since i was around 10 maybe . I thought about laser removeal but i can not afford it..(because the size is huge )and i really dont know.. these light brown colored skin with countless spot on it .I dont know what should i do

    • If you’re talking about the light brown cafe aulait spots we’re not sure what you can do, most people leave them and consider them birthmarks. If they are in an area that really bothers you, you could consult a dermatologist. If you are talking about cutaneous neurofibromas, you can have them removed by a good dermatologist or plastic surgeon, however they must remove the whole thing.

    • Tracey, We’re not sure what you are asking? Do you mean is there an eye test to diagnose NF Type 1? Not really, though they can look for Lisch Nodules in the eye which would meet one of the criteria for NF11

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