Café-au-lait spots and Neurofibromatosis

Dr.Greene, I am a retired Family Practitioner. My 7-week-old grandson has 7 cafe-au-lait spots. What does this mean about his chances of developing neurofibromatosis?
Brandon, Florida

Café-au-lait spots and Neurofibromatosis

Dr. Greene’s Answer:

Both Joseph (John) Merrick, the Elephant Man, and Quasimodo, the Hunchback of Notre Dame, are dramatic examples that have shaped our perceptions of neurofibromatosis. NF, also known as von Recklinghausen disease, is one of humankind’s most common neurological genetic disorders, indeed it is one of the most common genetic disorders of any kind.

“Treat me as an equal!” cried Merrick, whose appearance caused him to be ridiculed and rejected by 19th-century England. This courageous, intelligent, sensitive poet could find employment only as a sideshow freak.

Merrick’s mother was once watching a parade when, in the crush of spectators, she was pushed under an Elephant’s feet, “which frightened her very much,” wrote Merrick. “This occurring during a time of pregnancy was the cause of my deformity.”

Some doctors didn’t agree.

Merrick was brought before the Pathological Society of London by Sir Frederick Treves. A diagnosis of NF was finally made in 1909. So firm was this diagnosis that NF came to be called “Elephant Man’s disease.” The photograph of Merrick’s notorious disfigurement became the indelible image of NF in the minds of those familiar with it.

Not until the 1980’s did we learn that Merrick didn’t have NF but an unrelated condition called proteus syndrome (British Medical Journal, 1986; 293:683–685). I didn’t know this in 1982 when I read Merrick’s poignant three-page autobiography — after my surgeon told me he thought I might have NF.

Neurofibromatosis is a genetic disorder of the nervous system that causes benign tumors to form on the nerves anywhere in the body at any time. At least eight varieties of NF exist and can range from very mild to quite severe (Clinical Pediatric Dermatology, WB Saunders,1993), but fortunately none are as disfiguring as the tragic case of the Elephant Man.

Café-au-lait spots are a classic feature of this disease. These flat birthmarks with distinct edges are a bit darker than the surrounding skin. In light-skinned individuals, they are the color of coffee with lots of cream. In those with darker skin, they can be the color of a rich, full-bodied, black coffee. The spots can increase in size, number, and darkness throughout childhood.

Having one to three café-au-lait spots is quite common, present in as many as one in five healthy children. Each spot of significant size after the first three, though, is increasingly uncommon and increasingly likely to be associated with NF or with one of the other neurocutaneous syndromes, including neurofibromatosis type 2, segmental neurofibromatosis, tuberous sclerosis, McCune Albright syndrome, Fanconi anemia, Bloom syndrome and ataxia telangiectasia (CMAJ, Aug 2002; 167:3.).

Neurofibromatosis is diagnosed not with a test but by the presence of certain physical findings. People can receive a firm diagnosis of NF Type 1 if they have any two of the following symptoms (Textbook of Pediatrics, WB Saunders, 2000):

  • At least six café-au-lait spots more than 5 mm in the greatest diameter (before puberty) or at least six café-au-lait spots of more than 15 mm (after puberty).
  • Underarm or groin freckling (called axillary or inguinal freckling).
  • Two or more Lisch nodules (small nodules in the iris of the eye).
  • Two or more neurofibromas (rubbery lumps under the skin, often slightly purplish over the lump –these usually don’t show up before puberty) or one plexiform neurofriboma (thickened nerve trunks, often on the face – these are usually apparent at birth).
  • A bone lesion consistent with NF, such as thinning of the long bones.
  • Optic gliomas (small benign tumors of the optic nerve–most still have normal or near-normal vision).
  • A close relative with NF (parent, sibling, or child).

Many of these findings do not show up in early childhood. Thus, any child with six or more café-au-lait spots that are more than 5 mm in diameter should be monitored and treated as having NF. This means a baseline examination by an ophthalmologist and audiologist (including vision and hearing tests) and a visit with a geneticist. It also means considering a baseline EEG and head CT or MRI, as well as a skeletal survey radiograph.

Each parent should have these same tests performed on him or her; siblings may be evaluated as well. NF is often so mild that a parent isn’t diagnosed until café-au-lait spots are found on his or her child. Often, a child’s course of disease follows that of his or her parents. Those with a presumptive diagnosis of NF need annual vision and hearing testing, as well as an annual neurologic and skeletal exam (in addition to a regular physical). Children with NF1 should have their growth followed on a special growth chart. They should be monitored for high blood pressure. Over the course of a lifetime, patients with NF1 need to be closely followed because of the higher risk of several rare types of cancers.

Very recent research shows that children with NF can have a higher frequency of social problems, attention problems, anxiety or depression, aggressive behavior, and a lower frequency of involvement in sports and other activities. They may have developmental delays. These problems are often mild enough to be missed unless looked for. Early screening and treatment for speech, motor, and cognitive problems and an increased effort to prevent and treat psychological problems can make a huge difference in the lives of these children (Journal of Pediatrics, 1999; 134:767–772).

Although my condition turned out not to be NF, that period of uncertainty has left me feeling very close to my patients who have it. Joseph Merrick closed his autobiography with a portion of the poem that he passed out at his circus sideshow:

 

If I could reach from pole to pole
Or grasp the ocean with a span,
I would be measured by the soul;
The mind’s the standard of the man.
As it turns out, looks do matter.
Still

 

But progress in the treatment of disfiguring conditions is dramatic and accelerating every year. And progress in appreciating people for who they are is also being made, albeit at a slower pace.

Dr. Alan Greene

Dr. Greene is the founder of DrGreene.com (cited by the AMA as “the pioneer physician Web site”), a practicing pediatrician, father of four, & author of Raising Baby Green & Feeding Baby Green. He appears frequently in the media including such venues as the The New York Times, the TODAY Show, Good Morning America, & the Dr. Oz Show.

  1. Marta

    Hello Dr.Green,

    My 6 months daughter has more than 10 cafe au lait spots in her body and legs. Is there any method to remove the ca fe au lait spots? If my daughter has NF1, how can we do it?

    Everyday I am worried about this. I am getting crazy!

    Hope to receive your reply!

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  2. arun

    Hello Dr. Green, what is the treatment for NF? how to reduce the growth of tumours?

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  3. Sarah Kalai

    Hi Dr. Green,

    I am Sarah, 16 years old I have NF 1. I have many cafe au lait spots in my whole body and they disturb me very much expacialy the one on my face. The spots appear when I was 2 years old. I want to know if there is a way to remove the spots.

    Thank you

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  4. Maira Samain

    Dear Doctor,
    I would like to ask, if has cases of babies with those marks and do not have NF that all?
    Thank you
    Maira from Brazil (leaving in Bosnia)

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  5. Angel

    My mom has severe nf for over ten years. I the same spots but really big ones. I sometimes wonder if i have nf as well. And i notice my four month daughter is getting the same spots as well

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  6. Dave

    Optic Glioma can be benign, They can ALSO be very aggressive causing blindness.

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  7. Wendy

    My daughter has six to eight cafe latte birthmarks. She is fourteen and has mild scoliosis
    She also has reactive hypoglycemia, do you think she could have NF???

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    • Joe G

      Yes most likely.

      I am 40 and was digenosed @ 6. Was wild now it is moderate.

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  8. Nicky

    My son is 10 mouth old he was born with 2 spots now he is up to about 18 spots
    We are waiting for his appointment with neroli gist
    Then genetics testing, I know I have a mutated gene, lost baby last year and found out that is why.

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    • Candy

      I am going through the same thing my son is 10 months was born with a brown deformed arm now has 19 new spots ..got the gentic testing done today but they ran a blood panel for 12 different things

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  9. JoJo

    Hi, recently we have found out that my husband has Nf1 through his brother.
    He has several cafe au lait spots and neurofibromas but not severe. We have a 7 month old son and there are no cafe spots as of yet but am petrified if he might have it. Is there a cut of age as to when these cafe spots appear or will i be waiting in anticipation. I have severe anxiety at the moment and dont want my son to suffer in anyway just scared as i dont know anything about this condition. Some ppl say if my husband has it mild so will my son is this true.
    Trying to be strong but silently going crazy. Any info would help. Please.

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    • alanna

      It’s a 50/50 but the longer no spot the less likely. My daughter is 7, and doesn’t have any.. my two sons started having marks about 3 months old… i have nf1 and am 27, I’m fine. My 5 year old son is a cancer survivor for 3 Years this april. Thank the lord.. so many cases are different, but having it doesn’t necessarily always affect you to badly.. hope this gives you a piece of mind.

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    • Stacy

      You may have an answer by now, looking at the date you wrote this, but I decided to write anyway. I have nf1. What I was told was nf1 when I was a child anyway, by a really good genetic doctor. I saw him each year so he could check my skin and eyes and such. I saw him til I was 12. After that he pretty much said just keep an eye on it and see an eye doctor every now and then. I had a liche nodule in one eye for years. It appears it isn’t there anymore. I’ve had no tumors of any kind. I had an car accident at 16 from pretty much being stupid and have seizures because of the accident trauma. That has always caused me more issues than the nf. I’m beginning to thinki have what they call mosaic or segmental nf. Where you can have just little parts of it…not the whole thing, in short. Like I’ve only really noticed the spots i have. Several medium to large ones, tons of freckling on my body, but that’s never bothered me. Now, you child has a 50 percent chance of inheriting it. My child has 2 very light, small spots. Hes 5. I had like 5 at his age. His pediatrician isn’t worried at this point. I wouldn’t let it get to you. Don’t let it put a big cloud over your motherhood. I had all the genetics people in the hospital, 8 months pregnant, “before you continue aren’t you sure you want to see if your child has it first?” Um, no. I told them it wouldn’t matter to me if he did. I wouldn’t abort him, if that’s what they were getting at. I don’t know where mine came from, except my cousin on my dad’s side was a year younger than me and he had the spots too. His parents denied anything was wrong with their perfect son and never had him tested. Dumba** move in my book. Please don’t worry too much. Just keep your eyes open.

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  10. Sierra

    Does it appear to you that dr. Greene gives a crap about anyones comment on here? Well i think not so you are all wasting your time i mean seriously.. Lmao

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  11. Marline Flores

    One of my daughter has some kind of small freckling stains in one of her forearm, and there is a small stain on her upper left upper eyelid but never diagnosed of anything. Is this a neurofibromatosis?

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  12. Brandy

    I’m 33 years old and I have 17 cafe au lait spots all over my body. It’s always something I’ve been used to and they don’t really bother me. I also have a port wine mark on my chest. My mom mentioned that docs examined me when I was a child for NF1 but said it wasn’t NF1. I don’t have any other symptoms. However, I recently had a daughter and she also has a port wine mark as well as 2 cafe au lait spots. She’s 5 months old. Her peditrition asked if I’ve been tested for NF1 so now I’m nervous. Is it possible for the cafe au lait spots to be hereditary? Could doctors could have missed this all these years? How can I be certain I do not have NF1?

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    • alanna

      You have to get a blood test. And yes it’s hereditary, my grandmother, mom, me, brother and 2 of my children have it. My sister and my daughter do not.

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    • Stacy

      Some doctors just didn’t know that much about it then. Worth getting looked at. I’m 38 and was diagnosed with it but have never had anything but the spots, but saw a genetic dr til I was 12. My son is 5 and has 2. His dr isn’t concerned but keeps watch.

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  13. Suvidha

    Hi,
    My niece is 15 months old and she has coffee like spots all over her body. On her regular doctor visit this week, doctor referred her for neurofibroma tests. We don’t have any family history of this. Otherwise she is a healthy baby, very active and intelligent. Does having these spots makes sure that she is suffering?

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    • Father

      Hi, would you share what happened after your visit?

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  14. Uche Mbakwe

    My name is Uche. A 36 years old single lady. It is quite unfortunate am a victim of NF. I am a graduate of Biological Science in 2006. I’m not bad acedemical but started doing poorly in exams as from 10years old. I do well in class works and group discussions but not in exams. There is this re occurring blank out. I have these several growths of different sizes all over my body (annoying) Doctors call it neurofibromatosis. Please what is my fate? In future and if someone finally ask me for marriage? What are my kids fate. Thanks Doctors. I can send you pics if you want.

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  15. Sree

    Dear Doctor,

    I am 25 year old woman,having lot of Cafe au late spots on my whole body.I am being very badly made fun of by my hostel mates and some friends.I know the mental stress of being different from other women.I know the deep guiltiness and fear of rejection,but some how I am handling it.I donot want to get this disorder transfered to the next generation of mine.So I would like to know when I get married and if I get pregnant ,Is thers any preventive treatment for avoiding these freckling and cafe au latee spots on my kids body.???
    Pls reply as this is life time decision fr me to decide further about deciding whether to get married and hav kids!

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    • Anna

      You could try pgd/pgs in vitro The doctor removes chromosome 17 that if you have nf1. If you have nf2 doctor removes chromosome 22.. And your baby will not have any birthmark or tumors and you will have a healthy baby..

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      • karen andrew

        Hi.I am also an nf sufferer. The chances of any children you may have is 50/50.k

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    • Stacy

      Please don’t let the freckles and spots bother you or stop you from having kids! There are cosmetic treatment for that. And I’ve had them forever but I just never have a crap if someone said something. That’s just me. There’s more severe concerns than spots sometimes, but they’re rare. I have a son. He’s 5. 2 spots, dr isn’t worried. Please live your life worry free.

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  16. amy c.villa

    Dr. Greene,

    Hard for me and for my family that one of the member of my family is diagnosed of neurofibromatosis because of multiple cafe au lait all over the body of my 5 months old niece. So sad and hard to sustain some medication because of financial problem. We need your help if possible. Thank you.

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  17. vanessa manzo

    Hello Dr. Green, what is the treatment for NF?

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