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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Hi my 2.5 year old son has three TYPICAL spots however they are less than 0.5 cm. He also has three more ATYPICAL ones bigger than 0.5 cm but barely visible with zigzag edges and variable pigmentation. Would you recommend genetic testing?
Hello. Thank you for your comment. We are not medical professionals, so it is always best to check with your doctor. There are times when a doctor can make a diagnosis without the aid of genetic testing, however that depends on the situation and should be discussed with the physician.
How can identify typical spots? Small round spots (0.4mm) consider as typical? Do we count only ovoid shape spots for NF1?
can NF1 cause multiple cafe au lait spots alone? and no other symptoms?
Depends on your child’s age. If she’s young, she may not be manifesting other symptoms yet. It is possible she may not have any other symptoms. She should see an NF doctor.
my 6 years old daughter has many CALs (big and small) from her legs, arms back, tummy and 2 on her face and freckles on armpit and some under her eye she also have a little soft bump on her scalp that i suspect that gets a little larger since her birth, she is so active in school i dont see anything wrong with her learning infact she loves solving Math problems and loving to socialized alot, we are filipino with dark skin, i have one CALs on my leg and her mother has 2 or 3 moles and we don’t have history of NF1 on our families as i know. my question is can she have those NF1 symptoms and testing negative for it?
Ron,
We are not doctors so we can’t make a diagnosis. However, if you have any concerns I would bring them up to your daughter’s pediatrician. NF can be spontaneous, meaning a parent does not have to have it for a child to get it.
Hi,
My son is 6 months of age and he has 6 atypical CALs. My pediatrician hasnt said anything but I am worried as me and my wife feel that there is something wrong. We’re hoping its not anything but the more I learn about these CALs the more worried I get. His CALs are arypical. 2 of them are around 1cm in size and the others are located around his buttocks, groin, popliteal fossa, calves of both legs. Any suggestion on how to proceed would be of much appreciated.
Thank ypu for the help.
Saito,
We’re not doctors so we can’t make a diagnosis. It it is possible that your son could have NF but I would bring up your concerns to your pediatrician. Or you could try to see a specialist in NF. If you want to get more information you can contact us directly.
My daughter is 8 years old. She did not have any CALMs until last year when I noticed a large spot (>4”) on her thigh. In the past month she seems to have developed another on her neck (~1”) and fainter spots on her back (unsure if they are CALMs). Is this normal to develop these spots in later childhood?
We’re not doctors. Is your child already confirmed to have NF1 or are you asking if they might have it because of the presentation of CALMS? Do either of your child’s parents have NF1? If they do, then getting café-au-lait spots would be enough to confirm that the child also have NF1, though it’s odd for the spots to show up later. If neither parent is known to have NF1 and the spots showed up very early (like before two) then NF1 would be “suspected”. If neither parent is known to have NF1 and the child gets CALMs this late it seems unusual for NF. You should speak to your doctor about your concerns.
Thank you Karissa. She has not been diagnosed with NF1 and has no other symptoms except for what appears to be atypical CALMS that are just now appearing. I am now reading that atypical CALMS are less indicative of NF1. Her sister had to undergo extensive testing as an infant due to a segmental hemangioma I didn’t know could be a problem. Seeing these new spots gave me dejavu. I’m so thankful to this site and parents’ experiences to calm my nerves. I will continue to watch and follow up with her pediatrician.
My 1.5 year old son has 2 typical cals and 3 atypical. He now has a tiny mole or dark freckle in his groin area. His genetic test came back negative and his geneticist said not to worry about it, but i have a blotch of freckles since childhood on my left thigh that look just like segmental NF1. Should i pursue more testing for him and myself? It seems that doctors don’t know much about SMF1 and they don’t really care about my freckle birthmark. I don’t know how to get anyone to look into this.
Hi, Holly, and thanks for your comment. We are not treaters, so cannot comment on treatment specifics. In your instance, if your geneticist told you not to worry, it would seem that you have your answer. However, if you want to err on the side of caution, you could seek a second opinion.
I am older, before testing was done. My question is it unusual to have Cafe au lasts starting from my left side of my back going clear across under my arm pit clear around across my right breast? Never diagnosed for NF1 but dermatologist confirmed Cafe au last. I have some minor symptoms associated with it but no tumors.
We’re not physicians here, though we do consult with them.If you have multiple cafe aulait spots limited to a certain area you may have a mosaic or segmental form of NF1 in which it is only in the cells of that part of your body.
Hi Regina! what sort of symptoms you have? my 8 month old baby has similar spot and I am trying to figure out how worried I should be.
My 17 month old has one large cafe au lait spot on her chest down to her tummy. I’d guess it’s around 15cm long. Is this a concern? I mentioned it to my health visitor who asked me to refer her to the GP. The health visitor didn’t seem too concerned as she doesn’t have any other symptoms/issues. I’m going to refer her to the GP, however interested to know your thoughts.
We’re not physicians here, though we do consult with them. We shared your question and were told that at this time they would not be very concerned and that you should just continue to see your pediatrician.
Hi Lauren – if you get this may I ask how did your child do? mine has the same thing and she is 8.5m now
My dad just got told by his GP he has Neurofibromatosis as I encouraged him to get a check-up after he previously refused. I don’t know if this is genetic or a new mutation. If it’s new, can it still be hereditary?
I’m 16 and only one CALM spot, but I do have a small hard ball-like lump at the top of my thigh – and I do have a meeting with my GP in place in two weeks when she’s back so I could ask her about that.
I hope I’m not overreacting as I’m just really concerned, but my dad’s condition is really bad (which is why I encouraged him), and guess I’m preparing for the worst in case?
Nicole, If your dad has NF1 and it’s a new mutation then there is a 50% chance that you have it. Which is the same if he inherited it. However, if he has a new mutation and it is segmental NF – meaning it’s only in one part of his body (which only happens in new – ie. non inherited cases) then it depends on what part of his body it is. You say is condition if “really bad”. If that means he has fibromas on the skin all over, then he probably has full NF1. If you have only on CALM that’s not enough to diagnose you with NF1. You would most likely have more CALMS, but we’re not doctors. Please feel free to reach out to us at http://www.nfmidwest.org/contact if you want to discuss this more or give us an update!
Hello,
My daughter is 11 months old. I noticed when she was born about 2 cafe au lait spots (she may have had more). Now, she has 3 typical spots and another 4 that seem atypical. She is Black with a deep complexion so some of the atypical are difficult to see. Any advice? I will be taking her to the pediatrician soon.
Thank you!
She could have NF. Hard to say. Where are you located? We’d be happy to try to help or refer you to an NF organization in your area or to an NF expert.
Hi, I know that this post about NF1 is typically for children and parents but I have a few questions. I am twenty years old, soon to be 21 years old and I have recently found three more cafe au lait spots. I was born with one that goes under my right eye about 4 inches and spreads across the eyelid and about 4 others showed up before I was 13 years old. I haven’t dealt with finding any new ones for a long time, but this past year I found two more on either side of my head below my ears and one small one on my left shoulder. I didn’t really get the chance to regularly see the dermatologist as a child since my family couldn’t afford that so I am not sure if I was ever ruled out from not having NF1. I did read that NF2 and NF3 can develop later on in life and I am concerned that the developing spots could be indicators for one of those. If you could give me any advice on whether I should be concerned or not it would be wonderful.
Hi, Hayleigh. In general, if you are having concerns re: changes in your skin for essentially any reason, I would urge you to see a dermatologist. There are a number of things these could be but any would require a physician to make an appropriate and accurate diagnosis. If you are in our region, we could perhaps make some recommendations for you. All the best.
Hi! I’m a 33 years old woman. I was born with like 6 CALMs and as I was growing, I got more and more. After my 18-20 years, I started to get freckles all over my body except my legs. 2 years ago, I noticed a lump over my ribs. It was the first one I ever see. I saw a geneticist and he told me it’s a neurofibroma. Since I know I may have NF1, I regularly check my eyes for Lisch nodes and up to now, they haven’t found anything. Is it possible it’s not NF1? I’ve had the doubt about it because I got some benign dysplasias on my legs bones. I know that Albright and NF1 may need a differential diagnosis. I’ve considered to get a gene test just to be sure, do you think it would be useful?
Plus, is there any way to get rid of the spots around my eyes (they give me the look I haven’t slept in weeks)???
Berenice, We aren’t doctors. You should consult with a physician. From what you’ve described it does sound like NF though we’re not familiar with Albright. Regarding Lisch nodules, at your age you would probably have them if you had NF1, however they may not be visible to the naked eye. An eye doctor may be able to check for you. Genetic testing may help with diagnosis, but for the most part a good NF doctor should be able to confirm for you if you have NF without testing. We hope this helps.
Hi,
Our son is 10. He has never had any health issues until 3 weeks ago when he suddenly developed an intussusception of the small bowel and had to have an emergency surgery. They were able to remove the blockage without cutting the bowels so that was great. Since then, we had gone to see a GI specialist and he suggested NF1. I counted 5 cafe au lait spots on my son. No freckles in the folds. He is academically gifted and was a precocious talker/early walker, so there never was any reason for an alarm.
He had an eye exam last year, his left eye is weaker than right, but they did not see any abnormalities. I find it paralyzing to think of NF1 … especially going from healthy no problems to potentially severe disease. Any thoughts/ suggestions? Thank you!
Agnieskza, Hard to know if it is NF1. Can you take him to a doctor that has more knowledge.
Hi, my son is 4. He had 3-4 atypical calms on his arms and legs, the new one looks like it might be over his butt. In his first year of life I was freaked out and saw a pediatric dermatologist who had very low suspicion. I kept going back obsessing over his skin, so she referred her us to a geneticist. We saw a geneticist when he was 18 months who said he had no real suspicion of NF because the spots were atypical and he couldn’t even say for sure that one of them was a calm at all. At 21 months, I was still so worried, so we did the genetic test and it came back negative. Now he’s 4 and I noticed another one, which could bring the total up from possibly 3/4 to 4/5. With a negative genetic test and atypical calms and the geneticist who we saw 3x about the issue tell us he had no reason to suspect NF that I should drop the issue?
Amanda, There are other more benign conditions that can cause CALMS. For instance, Legius which is much more rare. Or it can just be “birthmarks”. At this point I don’t THINK you have to over concern yourself. If you, or his father, doesn’t have NF and he only has 4 or 5 CALMS he is not meeting the diagnostic criteria.
Any comments on what makes a typical CALMS? We have noticed 6 – 7 apparent CALMS on our 2.5 month old daughter. She appears otherwise well. They are on her trunk and one or two on an arm and leg. A few are very faint, to the point that they would be easy to miss if you were not looking for them. Does how dark they are make a difference in terms of whether or not they are considered typical?
Thanks
At 2½ CALMS can be very faint. If you daughter has 6 to 7 at this age it would probably be a good idea to ave a doctor evaluate her. Please call us or send an email if you’d like to talk more about this.
I have a seven month old who was born with a large calm on the back of her head (quarter size), she has since grown two other large ones (nickel size) (one on her knee and one on her tummy, she has about eight smaller ones (size of a a half a pea) in various other parts of her body (arms, back, legs). It appears more continue to come up almost weekly.
She also has two dark freckle spots under her armpit. I have taken her to her family doctor who confirmed they are Cafe Au Lait spots and has contacted a dermatologist to further look into. Any further advise you can give as my wait time could be a few months? Does this sound like NF1 or something else? Thank you
We are not doctors, however this sounds like it could be NF. If you live near an “NF clinic” that would be a good place to go for confirmation and information. If you’d like to let us know where you live we can direct you. Please, email .
My daughter has multiple CALMS and freckling in groin and armpits. Her genetic testing (5 years ago) came back negative but we’ve been watching for and signs that would deliver a clinical diagnosis. She had bi-yearly checks for lische nodules and optic gliomas. She is almost 10 and has been clear of any eye issues and neurofibromas. The ophthamologist said that by 10, she would most likely have the tumors or lische nodules, so she’s down to an annual check up for her eyes. I am wondering about the neurofibromas. Is there an age where we could maybe breathe a little easier that she isn’t going to develop this disease? Thank you for any information! With her test being negative, we’ve struggled to find information on what to do for her.
Tammy, We’re not doctors. It is possible that someone at the age of 10 could be tumor free. Has your physician thought about Legius Syndrome as a possibility? https://rarediseases.info.nih.gov/diseases/10714/legius-syndrome
I apologize. I saw the doctor’s name and didn’t read the description. I thought it was her educational info. I have looked at Legius Syndrome also, but she really doesn’t fit that criteria either. Our doctor is more of a wait-and-see physician, which we mostly like, but with negative testing, I feel like our info is limited. We didn’t get a support group or explanation from the geneticist (other than to send her any further info). I appreciate pages like this that collect information in one place! Thank you for your hard work!!
Ok. Please let us know what you eventually learn.
I have a two year old son who was diagnosed with cutaneous mastocytosis at 16 months. I have linear scleroderma myself and ha e several family members with NF1 NF2. My question is my son has three cafe au lait spots one on his groin, one on his upper back and one on his forearm. Should I be concerned that he has or will develop NF1?
Irene, We’re not doctors and this sounds like a complicated question. However, none the disorders in your family are associated with each other, though I’m not sure about this “cutaneous mastocytosis”. Even NF Type 1 and NF Type 2 are two separate orders. With the cafe au lait spots it could be NF1. I suggest you talk to your pediatrician and/or a specialist.
Is it normal to develop after puberty? I am 19 years old and recently discovered around 4 or 5 spots on my chest and seems to be spreading (not exactly sure, hard to keep it count), but I don’t record seeing them before I was 18.
Rafael, If you have NF Type 1 and are referring to cutaneous neurofibromas, you may continue to get them throughout your lifetime. It really varies from person to person. You may get just a few or you may get many. Make sure you see a physician who is experienced in NF if you can. Also, it may be possible to have them removed if they become a nuisance. Again, find a physician to help you.
Hey, Rafael! I am 18 years old, and we have the same concern. So far, I still do not have a single neurofibroma, but with the same quantity of CALMS as you, and mine are also found on my left shoulder and chest. Though I do have small lipomas on my lower back and signs of ADHD, which is most probably related to an NF1-like condition known as Legius Syndrome, much rarer than NF1, but still possible.
My mom has a massive CALM on her shoulder, and that’s probably the only one she has and no other NF1 symptoms or anything like such, so hopefully, I must have just inherited this from her and nothing else.
Feel free to reply to this comment if you want to be mutuals on social media!
Hello,
We are pending genetic testing, just went yesterday for the blood work. Question regarding inguinal freckling. It stops at the midline , doesn’t cross. Is that the typical presentation of inguinal freckling or does it go all the way across? Also, she only has 2 CALMS. One is at the start of the freckling. I know your not a doctor but might have some information if the freckling usually stops at midline or goes across. Thank You!
I’m not a doctor (as you said). If neither parent has NF1 and if the freckling and cafe aulait spots stop midline than it may be segmental N.
HI,
I Have NF1 and recently gave birth to my child through PGD. The Embryo was tested -ve. Today at his 4th Month appointment, the doctor observed one patch of skin with a few Cafe Au Lait spots. We are meeting a dermatologist shortly. I am getting increasingly scares about this being NF1. In NF1 is it possible to have only one part of the skin affected. Also it looks like the Cafe Au lait spot is resembling Maine border rather than Cal Border. My Wife has one such big Spot in her back. What are your thoughts.
Yes it is possible to have NF1 in only one part of the body. This is known as segmental NF1. Segmental is not inherited however. I’m not sure what you are saying about your baby’s looking like a Maine border. There is no specific shape to cafe aulait spots. It may be too early to determine if your child has NF. I would recommend seeing a doctor who has experience with NF1.
Thanks for your reply. I meant to say that the Spots are Atypical. Looks like someone has painted his skin with a Brush Here and There. At what age can we do a genetic test to determine is he indeed has Nf1. As I said earlier we did PGD on the embryo for NF1 and it came out to be -ve.
You should talk to a geneticist about when you can to testing and if it would be helpful.
Hi Amitabh,
If you get any information on how early we can get genetic testing, please do let us know. My baby is 4 months with 5 CALMs and I am worried sick.
Hello, Anias. A child can be tested genetically as soon as he or she is cleaned up after delivery. That is to ensure no cross-contamination of the specimen by amniotic fluid, mother’s blood, or other bodily secretions that accompany birth. At four months, none of that should be an issue. You can speak with your baby’s pediatrician to arrange for testing. Good luck!
Hello,
My daughter is 6 years old. She had her 6 year check up with her pediatrician this week. She called out her inguinal freckling on the right side. She has about 12 small freckles. She has a few random freckles on other spots of her body that are a little darker then the freckles in the groin. She only has 2 CALMS 1 small one on her collar bone she has had since birth and one on her hip that is very tiny. She does not have any other symptoms (although I know many you need a thorough examination to tell. I am on a wait list for dermatology due to Covid. Needless to say I am worried sick. Do you know of any instances where there is only inguinal freckling without any other symptoms and no NF 1? Have you seen just inguinal freckling without a diagnosis and the child is ok? It is super rare where her freckles are now that I have been researching this. Any information would be helpful regarding freckles. Thank You!
There’s also the possibility of Legius Syndrome but that is even more uncommon. You can learn more here https://ghr.nlm.nih.gov/condition/legius-syndrome. We’re not physicians so we can’t say if there have been cases of inguinal freckling without other symptoms. There are other things to look for that might give more of a confirmation of NF1…IE. large head, developmentals delay, poor motor skills, speech issues, etc however not having those would not rule out NF1. Having them would just be more of an indicator. Please, email us a and give us more information such as where you live so we can possibly be of more help.
Hi, I wondered if you have had any more information regarding the freckling? My 13 year old son has armpit and groin freckling but no cafe au lait marks at all. Was picked up at an appointment last week. He’s had them possible 2-3 years I took him to the Drs when I first noticed them but was told it was nothing? I’m going out of my mind with worry, I’m waiting for a light exam and eye exam but I’m struggling with the wait and frantically searching things.
Carlie, I am not a doctor and it’s best to seek guidance from them. I know it’s hard though not to worry. I will say I can’t remember in the 20+ years that I’ve been involved in the NF community ever meeting someone with only freckling and no cafe aulait spots. At least, not by age 13. In my experience, cafe aulait spots start to show up in toddlers and even babies. I would focus on whether your son is healthy and on par in school, etc. Does he have any other issues? Maybe it’s just a genetic and harmless quirk that has created this freckling. Please, let us know if you find out anything.
Hello I’m 21 years old from Indonesia , I have many cafe au lait spots and also smaller spot , I have few on my inner thigh and my groin (I don’t know if it considered freckling ) but none in the armpit and as far as I know I don’t have any other symptoms , my dermatologist say that I don’t have it (nf1) but I’m still worrying becauase I did not find anyone has many birthmark like me and the internet make me anxious , does someone just have that birthmark or it’s more common for people in my race because I’ve seen many people have this but not as many as i have , and at what age does neurofibroma usually develop?
Neurofibromas can develop at any age but usually more show up as you age. Some people may only have a few their entire life. Still by 21 you would likely have some..even below the skin. If you had NF1 you’d likely have Lisch nodules in your eyes by now. These are harmless small marks that you may not be able to see. An eye doctor should be able to check for you.
Hi! I am an 18-year-old male from the Philippines, and I have the same concern as well. Upon checking, I only seem to have less than 5 large CALMS (less than 15mm), the rest are probably just freckles. I very much understand your anxiety, as I too have health anxiety, and the only time I found out about NF1 was when I randomly Googled my birthmarks out of curiosity (and I definitely did not expect anything this serious haha) which led me to check my body constantly for other signs of NF1. I do not have a single neurofibroma, but I do have small lipomas on my lower back, which is probably indicative of an NF1-like disorder called Legius Syndrome. I also have signs of ADHD, which can also be related to another genetic disorder other than NF1 (such as Legius.) My mom has a huge CALM on her shoulder but upon checking, it seems that it is the only birthmark that she has, and very small freckles surrounding it. She has no other NF1-like symptoms at 46, so hopefully, I might just have inherited this from her. I feel sort of relieved knowing that there are people out there who also feel the same way as I am, and at your age, you’re probably less likely to get NF1 as by that time, you should have neurofibromas already, even just the small ones (at least that’s what I’ve seen and read in many journals published online.)
My daughter is currently 5 yrs years old and I am suspecting NF1 or Legius syndrome but I am not sure on the CALMS vs freckling. When she was 4 months old, a lump developed in her abdomen, just under her skin that grew very fast. She had surgery to remove it and it was a benign non fibrous lipoma. She is also short for her age, always has been, in the 13th percentile. She also has about 3 larger cafe au lait spots that she’s had since a baby on her torso. Within the past 6 months or so, I’ve notices a cluster of what looks like very fain, super small bruises underneath her arms by both her armpits and groin. Is this freckling? They are not true freckles, look more like very faint super tiny bruises that do not go away.. but I suppose they could be small cafe au lait spots. I am not wanting to take her into the dr right now due to the risk of catching the coronavirus. What are your recommendations?
I know it’s hard but if she does have NF1 there is not rush for her to see a doctor. CALMS do often look like bruising at first and the freckling can look like tiny CALMS. It’s really hard to know. Does she have any other signs like a larger head (not necessarily a diagnostic criteria but when added with other things it could add to the suspicion)? Once the virus let’s up I would recommend seeing a doctor. If she does have NF1 she should get good vision testing.
My multiracial one year old grandson has what seems to be 6 CALMs. He parents are of African-American and Jewish/Japanese ethnicity. I have seen anecdotal references to an increase in benign CALMs in biracial children, but have not found any scientific literature studying thus issue. Any additional information about this issue would be appreciated..
I’m sorry we haven’t seen anything either and we’re not sure that there would be any relevance or need study it as CALMS are a harmless complication of NF1. Sorry, we don’t have any answers for that.
Hi Ed,
My biracial 4 month old has 5 CALMs. My husband is white and I am Indian. It’s just so hard to wait and see what comes next.
Hi! we also have a biracial baby – 8 months old happy and healthy otherwise- with CALMS and are worrying!
Hey I quite confused about how typical CALMS looks like. I have a 1 year old with the 5th spot just discovered today(still under 0.5cm). He had an eye exam for Lisch when he was 6 months old, with no results. The problem is most of his spots doesn’t look like in the image they are defiantly in the same color but they are not in the same shape I would happy to show you on mail.
This is quite stressful for us because in our country you can spend months waiting for a special doctor appointment.
Thnaks
We’re sorry for the difficulty getting to a doctor in your country. The look of CALMS can vary and Lisch Nodules may not show up until much later. Please, push for an appointment with a doctor.
Hi! My two year old son currently has about 8 large spots and at least a dozen smaller ones alone with freckle clusters right under his buttocks. He also has a couple of white patches of skin about the size of a quarter on his groin (I’m not sure if that has anything to do with the cafe au lait spots or not). My sons pediatrician wasn’t very concerned about this because I’m Caucasian and his father is African American. I decided to make an appointment with a dermatologist for someone to have a second look at him. I’m concerned this could be NF1.
We’re not doctors. It does sound like he may have NF1. A good doctor should be able to diagnose him for you. We’ll email you.
Did u find any answers. It sounds like my son exactly.
Hello. My daughter is 13, she has 7 cafe au laits On her trunk, legs and arms. She has just been diagnosed with absence epilepsy. She has no other symptoms. Does it sound like nf1. I am terrified.
We’re not doctors. It is possible. A good doctor should be able to diagnose.
Hey! My 6 year old/almost 7 year old has appeared to have faint to lightly brown feathered cafe au lait spots on her torso and neck since she was about 3. She has around 12 spots. Her largest is on her neck that is around 2in x 3in. And the rest are around 1in x 1in varying in shapes but all feathered borders. Have you heard of anything like this not being nf1? She is currently being watched by an nf1 clinic in MN. However no answers yet. She is seen again in april 2020.
We’re not physicians here but parents with a lot of experience. From the sound of it, it seems like it COULD be NF. Being watched by the clinic in MN is the best option. I know it sucks not knowing for sure, but if it is NF1 the docs may be able to tell more as she gets older…and possibly soon.
Hi,
I recently heard of neurofibromatosis and it has me thinking about the cluster of small cafe au lait spots my 4 year old has in the middle of his lower back. There are way more than 6, but they are small…I’m not sure if any of them are half a centimeter in size. Would this be indicative of something else?
One reason I am really wondering is that in further reading about NF it said that many kids can also have speech issues, which my son does have.
Is there a good way to find a medical professional in my area that is familiar with NF? We are in central Ohio.
Thanks!
Cincinnati Children’s Hospital and Cleveland Clinic have NF clinics. You can look for options here http://nfcollective.org/find-a-doctor
I think the café aulait spots along with the speech may be a good reason to have him checked out.
Hello there
Please can you tell me if there is a specific eye test we need to have done to diagnose Cafe au Lait?
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
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.
For the 6 does it matter the size of each one. If a few are the size of 2dots in a straight line is that considered one?
Hmmm…Not sure. If you NF1 that may be enough. Also, may depend on the age. It’s best to ask a doctor.
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, 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.
Tharanga, A good neurofibromatosis doctor should be able to help you or you can get genetic testing.
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. 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.
Hi I know this is old but my baby has the same one on her Pubic area with a freckle In it as well as a couple other spots did you ever get it figured out?
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.
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
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.
I’m 16 and I just noticed CALS on my body. Is this unusual?
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.
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!
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.
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 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.
At what age to cafe-au-lait stop developing?
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.
Hi
I really need some advice about my son’s CAL
Is there anyone to contact privately?
Thank you
Roseanna
Roseanna,
Sorry for the late reply! You can reach out to us at http://www.nfmidwest.org/contact. We see however, that you are possibly in the UK. Have you tried contacting https://nervetumours.org.uk?
Hi! Probably I’m reading this so much time after you posted it. I don’t know what the experts may say. I’m a 33 year old woman with NF1 and I still developing cafe-au-lait spots in all my body: big ones, and little ones that look like freckles. But that’s the only manifestation that I have of the disease (besides just one neurofibroma). A genetist told me that maybe it’s related with the penetrance of the mutation in my gene. So, I know I’m only one case, but maybe that info results useful for you 😉