Café-au-lait spots and Neurofibromatosis

Question

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

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.

Last medical review on: May 01, 2008

About the Author

Alan Greene MD

Photo of Alan Greene MD
Dr. Greene is a practicing physician, author, national and international TEDx speaker, and global health advocate. He is a graduate of Princeton University and University of California San Francisco.
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Arabella on April 4, 2019

Hello. I am a 16 year old girl with multiple large café au lait spots. They are fairly large, and spread from my elbow to half of my chest and upper back. On the side with the café au lait, I have noticed that it is noticeably more fragile and prone to pain. My shoulder, hip, and knees on that side crack and hurt frequently. I know I should be a little concerned, but does this mean anything harmful?

Tamara Boyd on February 8, 2018

Good afternoon,

Do you have any suggestions as to the where I could go myself, as I have several cafe-au-lait spots, and have had them since childhood, I can remember as far back as 5 years old. On my arms, one goes inner arm to my wrist and I can remember it being 2 or 3 smaller ones, now they practically touch. My mom used to try scrubbing them off thinking they were dirt when I was a little kid. Yes, I have one or 2 spots in my eyes. I can remember as a small girl crying myself to sleep because of what the doctors said were “growing pains”. I’m all of 5’2″; for the pain I was in, I should be 7’6″. The list goes on, such as Cushings, a hysterectomy due to multiple cysts, I also have Arnold Chiari Malformation and several other issues, but since reading about this, it seems this may have connect many of them. I’m in the south east and am willing to travel by car as I cannot fly, so any suggestions would be greatly appreciated.

Pat on August 13, 2019

I would consult a naturopath who does hair sampling and live blood analysis to get to the root of the problem😊

Waleed Ghaleb on November 23, 2017

My baby was born in September 2014 and he has a Café-au-lait Spots ,
There are no symptoms of cramps or anything abnormal and it goes through very normal growth stages, but I am afraid that these spots will turn into cancer cells in the future or have a harmful effect
The family of the father or mother does not have such spots and we live in Egypt
I apologize for not arranging my words but I fear him very much.
I went to Dr. Mohammed Saad al-Rifai and told me that he is a hereditary disease and there is no cure for him and should not be exposed to sunlight
The doctor ruled out Neurofibromatosis
I am afraid now of having a new baby
Please help me and advise me. Can I stop those spots spreading or I can have a new baby?
Hope to receive your reply!

Priyanka Swami on January 3, 2017

My son have these marks. now he was 4 years old. At the time of the birth he had only few marks. But now he had several marks all over his body. It is so difficult to count them. Now iam so afraid of his health and appearance. Is there any solution for this problem? Plz tell me and help me. By god grace All MRI and EEG reports and eyes condition also normal. I want solution for these brown marks.

Faith on January 2, 2017

I just want to provide some hope to those who may be anxiously awaiting answers regarding a child’s cafe au lait spots. My son was born with a large spot on his arm. At about 2 months I noticed another on his shoulder. By a year old I discovered some extremely faint spots which I was not sure and am still not sure are even considered cafe au laits all over his torso….adding up to about 8 spots in all. At this point I got extremely worried and saw his pediatrician who referred us for genetic testing. The months between the time he took the test and when the results were finalized were excruciating as a mother. The worry was nearly all-consuming. I continuously prayed to the Lord that my baby be okay and had so many loving people and parishes praying for him as well. Despite all the data and everything you read about the probability of disease with the occurrence of so many spots, the genetic test showed no NF1!!!!! I followed up with the NF specialist in Chicago who agreed. I took the time to post this to provide some comfort and hope to those who might be going through what I was. To those who suffer from NF or love someone with NF, I keep you in my prayers daily.

J. R on April 3, 2018

Thank you, Faith, for your email. I am still in dilemma about my daughter. But it is good to know that CALS can be just pure coloured patches with no NF consequences. I can imagine how happy you was when you have received that negative answer. Congratulations!

Jojo on November 8, 2016

Hi everyone.

I commented a while back in regards to my son having it. Thankfully he didnt present any marks on his body so didnt think my husband had Nf1. Now unfortunately to my shock had my baby girl and several cafe au lait spots have popped up. she has 6 of them and she is only 2 months old. Im in shock and scared. The thing concerning me the most is the plexiform neurofibroma when do they appear? Also her eyes how will they be affected? Scared so much. Can someone shed some light in this dark and depressing state im.in. Dont want my baby girl.suffering or even getting bullied at some stage in her life..

Kristina on October 28, 2016

Hello. I am from Bulgaria. My daughter have more 6 cafe late spots . We do a genetic test in Bulgaria. The lab told us they have not discovered mutations in the gene. Could not NF1

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