May 16, 2008


A. David Rothner, MD

Cleveland_Clinic_Host: Welcome everyone, and thank you Dr. Rothner for being with us to discuss Neurofibromatosis. We look forward to an interesting chat today. Let's begin with one of the questions!

jimmeena: My wife has tremors, nausea (result of medication?) pain in neck/shoulder area and migraine headaches. She takes Xanax and switched to Ativan. She seeks relief from the nausea unsuccessfully. She has constipation and after taking medication to cure the constipation, she now has diarrhea. This has been going on since last summer. Please comment. Should we make a trip to Cleveland Clinic? She has seen neurologists and had several tests and still suffers.

Speaker_-_Dr__David_Rothner: It does not sound as if your wife's issues are all directly related to NF. It does sound, however, that she would benefit from a thorough medical evaluation which could begin either in our headache dept. and/or rheumatology dept. You can make an appointment with any of our specialty areas by calling our appointment line at 800.223.2273 There is also an online evaluation. Either of these areas would be a good start.

The Genetics of NF

kolea: Can you explain the genetic links in regards to NF?

Speaker_-_Dr__David_Rothner: NF refers to neurofibromatosis. The most common type is NF1. NF1 can never morph into NF2 - they are completely different diseases with a similar name. About half of the patients that we see with NF1 get it from their mother or their father. And with the other half of NF1 patients that we see, there is no family history and it is called a spontaneous mutation. Almost all NF1 patients have external manifestations by the time they become teenagers. Once a patient has NF1, each one of their offspring stands a 50% chance of having NF1. For example, if a man has NF1 and has 4 children, each one of them stands a 50% chance of having NF1. So he could end up with all 4 children with NF1, no children with NF1 or any combination. The severity of NF1 bears no relationship to the severity of the NF1 in the parent. To review, NF1 occurs in approximately 1:3500 births and the most common abnormality is cafe-au-lait (CAL) or brown spots which can be seen in infancy and early childhood.

Neurofibromatosis 1 (NF1)

knockemdead: My son-in-law has NF. He and my daughter recently had a baby girl. What signs can we look for to see if she will have NF, and at what point should she be tested for this?

Speaker_-_Dr__David_Rothner: If your son-in-law has NF1, there is a 50% chance that his baby girl has NF1. The most common symptoms are cafe-au-lait (CAL) spots which should be present in infancy and early childhood. We do not recommend or suggest routine blood tests, but rather that the child be followed by her primary care physician and referred to an NF expert if indicated.

gao2205: My 5 month old daughter has three spots, and her doctor is concerned about NF. I was told to watch for at 5 spots at 5mm or greater. Waiting for this is very stressful for me. Is there anything I can do to confirm or reject this diagnosis in another way?

Speaker_-_Dr__David_Rothner: Cafe-au-lait spots (CAL) – one, two or even three spots may be seen in normal individuals. If your daughter has 3 cafe-au-lait spots, examining her with a Woods lamp may reveal more. In addition, many of our youngsters, when exposed to the sun, seem to allow us to observe more cafe-au-lait spots. So I would agree with your doctor that observation is a good idea. But if this is very stressful to you, consultation with a pediatric NF expert may be worth while. The earliest manifestations of NF1 are the cafe-au-lait (CAL) spots.

Suz: I have a 16 year old son who was suspected to have NF1 when he was younger but he lost the spots on his trunk as he reached age 12. The geneticist then said he was not likely to have NF1. He still has all the "secondary symptoms" of NF1 such as poor motor control (fine and gross), ADHD (I know such a link is now being investigated), learning difficulties etc. I still think he has NF1. Could he? I know that the blood test for NF1 wasn't very accurate, only about 70%. I don't want to put him through that until it is more accurate. Also his maternal grandfather has developed an NF2 ear tumor in his 70's. What is the connection, if at all?

Speaker_-_Dr__David_Rothner: Once again, NF1 and NF2 are unrelated. So there is no relationship between the grandfather and your son in regards to both diseases. ADHD and LD are so common in the general population, that they are not specific enough to make a diagnosis of NF1 in your son. My suggestion would be to have your son seen in consultation with an NF1 expert, have his skin examined using a Woods lamp which may allow very pale café-au-lait spots to be seen. If we suspect NF1 we might consider an eye exam using a slit lamp to look for lisch nodules and possibly an MRI scan. We do not always jump to DNA testing unless other questions are present.

Neurofibromatosis 2 (NF2)

Speaker_-_Dr__David_Rothner: There are lots of questions about NF2 - so let's move on to NF2.

karens: What exactly is the correlation between NF2 and hearing loss? Is the loss sudden or gradual?

Speaker_-_Dr__David_Rothner: NF2 is less frequent than NF1 and is a completely different disorder. Less than 20% of individuals with NF2 show symptoms prior to the age of 18 yrs. In adults, the most common presenting symptoms are hearing loss, balance difficulty, vertigo and facial weakness. At this time, in addition to a thorough examination by an expert in NF2, the most useful test is an MRI scan of the head which may show tumors on the 8th cranial nerve. The 8th cranial nerve is the nerve that assists with hearing and balance.

kellyk: What is the prognosis for a person with NF2 who develops a brain tumor? If one is successfully removed, should more be expected to develop over time?

Speaker_-_Dr__David_Rothner: Individuals with NF2 have a propensity to develop benign tumors. Depending on the size and location, they can be observed, be operated on or treated with surgery. Careful monitoring of all patients with NF on a regular basis is a good idea.

sallyk: Does someone with NF2 get café-au-lait spots?

Speaker_-_Dr__David_Rothner: Jumping back to NF2 for a moment, patients with NF2 may have a few CAL, but they certainly do not have a lot of them or even six. The most common skin lesion is a soft fatty skin growth, sometimes with a few hairs on it that is often mistaken for a lipoma - but on biopsy is a schwannoma.

Segmental NF

Suz: How many subtypes of NF1 currently have been identified? Where can I get information online about these subtypes?

Speaker_-_Dr__David_Rothner: The most common type of NF1 is the form that has multiple CAL and meets the other criteria outlined by the NIH. The second most common type is the Segmental NF1. Other subtypes and/or associations are rare. These include an association with Noonan’s syndrome and an hereditary form of CAL only without other manifestations of NF1. If you believe someone in your family has an unusual and rarer form of NF1, they should be investigated at a center specializing in NF.

ksp: My 3 year child was diagnosed with Segmental NF. Can or will this develop into NF1? Do I need to follow up on this?

Speaker_-_Dr__David_Rothner: Segmental NF seems to be a subtype of NF1 where the CAL (cafe-au-lait) spots or tumors are localized to one segment of the body, such as one shoulder and one arm. This is thought to be a mutation of the NF1 gene after the embryo started to develop. In most cases, the mother and father do not have NF1 and there is less than a 10% chance that this disorder in any form will be passed on to the individual’s children. In most cases, Segmental NF1 does not cause significant problems; however, if there are deep seated tumors in one arm or leg they may cause weakness and/or pain. An expert should be consulted in these cases.

ignoreem: My son will soon be 18 years old; will he have to stop seeing his pediatric neurologist? What transitions should my son expect?

Speaker_-_Dr__David_Rothner: If your 18 yr. old son has NF of any type, he should be followed into adulthood by an expert in NF. This could be an adult neurologist or a geneticist. The most important thing is that the physician be knowledgeable about NF.

Causes of NF

charlenem86: Have there been any outside or environmental causes leading to the genetic mutations of NF1? My daughter was diagnosed at 2 months old and as far as we are aware, we do not have NF.

Speaker_-_Dr__David_Rothner: The fact that your daughter has NF1 and you and your wife do not have NF1 is not at all unusual. NF1 or NF2 are either inherited from the mother or father or are caused by a spontaneous mutation. Fifty percent of all new NF1 patients seen are spontaneous mutations and neither the patient’s father nor mother has the disorder. Also, to the best of my knowledge there have been no definite associations of environmental issues and genetic mutations.

Pregnancy and NF1

jenniex: I have NF, but my daughter does not. She is now pregnant. What are the chances that her child could have it? I understand that a child born from a person with NF has a 50/50 chance of being born with it. How about the second generation?

Speaker_-_Dr__David_Rothner: If indeed your daughter has been thoroughly examined and does not have NF1, the chances or your grandchild having NF1 are the same as any other individual in the general population - approximately 1:3500. NF1 does not skip generations.

pitpatpatter: With NF1, I have heard that hormones during pregnancy can cause more bumps. Is this true also for birth control pills or other forms of contraceptives?

Speaker_-_Dr__David_Rothner: Often it appears that some of the skin bumps appear at the time of puberty - maybe more often in girls. They may also increase during pregnancy. To the best of my knowledge, there is no blanket contraindication to birth control pills or other forms of contraceptives. Some people with NF1 have short stature. In recent years, many or these youngsters have been treated with growth hormones. This does not seem to adversely impact their NF1.

Diet and NF

rusassy: What is the relationship (if any) between gluten and NF? My spouse has gone gluten free and his tumors have not noticeably grown.

Speaker_-_Dr__David_Rothner: Many patients feel that diet affects the growth of their skin tumors. If a person feels that a gluten free diet is helpful, although being on such a diet is difficult, they should continue it. However - there is no proof that a gluten free diet decreases skin tumor growth.

Activity and NF

costan: Are there any activities that need to be limited due to neurofibromatosis?

Speaker_-_Dr__David_Rothner: In an otherwise well individual, there are no activities that need to be limited in individuals with NF. If, however, an individual has NF2 and bilateral vestibular tumors, extreme caution should be exercised when swimming, especially if going under water - as they may experience difficulty with their sense of direction under water.


mitchc: What can be done cosmetically to help with the tumors?

Speaker_-_Dr__David_Rothner: When I make the diagnosis of NF1 in a child, the family often goes to the web and finds pictures of individuals with severe cosmetic problems. This can cause the family to become quite frightened. In general, the vast majority of patients do not end up like those pictures. We emphasis, once again, the importance of individuals with NF of any type, any age, to be followed by experts in NF on a regular basis. In this way, all sorts of problems can be identified at the earliest stages and appropriate interventions initiated to avoid complications. At our NF Center, we have individuals with extensive experience in dealing with NF related problems such as scoliosis, skin tumors, optic gliomas, boney deformities, learning disabilities and vascular issues. A general rule to consider is that the more experienced an individual has with a certain disease or complication, the more likely a successful outcome.

nightandday: If a tumor is removed by surgery, can it grow back? If so, what is the likelihood?

Speaker_-_Dr__David_Rothner: Individuals with NF may have different types of tumors, in different areas of the body. So complete removal would depend on the tumor location, type and whether or not it was infiltrating or growing into other structures. Once again, surgery should be performed by an individual with both expertise and experience in the type of growth encountered.


wiley1056: Can you discuss a little of the research being done now about NF1?

Speaker_-_Dr__David_Rothner: Research into the basic science and clinical aspects of all forms of NF is flourishing. Indeed, this June 2008 there will be a major 4 day conference dedicated to all aspects of NF. Further information can be obtained by visiting the website of the Children's Tumor Foundation (CTS).

Cleveland_Clinic_Host: I'm sorry to say that our time with Dr. Rothner is over. Thank you again Dr. Rothner, for taking the time to answer our questions today.

Speaker_-_Dr__David_Rothner: This was a great format. Thank you for having me today.

Cleveland_Clinic_Host: Find more information regarding Neurofibromatosis. For general health information you may also wish to visit

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