Can NF symptoms go away?

Hello, all!

I'll start with a question about myself, though now I'm also worried about my elder daughter. Hope you'll help me with information and advice.

I was born with several CAL spots (can't say how many) and one large white spot on my torso. The doctors told my parents, nothing to worry about. True, the spots completely disappeared near puberty. Not a trace of them was left.

As a young adult I noticed a small and pale CAL spot under my right arm. It's still there! I read that in diagnosing NF, one axillary freckle is more important than 6 CALS. I assume, I might be NF-affected...

I'm now in my early 30ies, have two kids. My skin is quite smooth and good (definitely, no bumps). I've been a bit short-sighted since high school, but my iris is clear. Have a mild scoliosis, also since high school, which has never required any treatment or caused any problem. No major health issues.

A qualified geneticist is not available where I live (I've been to a geneticist - no use). Doctors are very ignorant about NF. I tried to look for CALS on my body, and noticed just one on my right hand. It's visible only in winter, when the skin is not tanned. I'm not sure about the size (maybe 2-3 cm), because it's too pale and the border lines aren't sharp - you can't see where exactly it begins or ends.

Does it happen sometimes that CALS go away as you grow up? Can NF be really so VERY VERY mild that it causes nothing but one small spot in the armpit? Or shall I expect that other symptoms (numerous CALS, freckles, bumps) appear later in life, say, after 40? Is it possible (I know, chances are slim) to have an axillary freckle and have no NF?

Thank you!

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Olechka,
I am unsure about whether or not cal's can go away. There is something called a wood's lamp that a doctor can look at your skin with and cal's will show up that might not show up to the naked eye.
However the good news is it's possible that it could be a disorder called spred-1. This disorder presents with cal's and the freckling, but not the tumors. So if there is ever some way for you to be genetically tested (I see that you are in Russia so I have no idea where/how things work there) you could have them test for both. It could technically still be NF1 and you have a mild case. I hope this is helpful.

Andrea

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Hi, when they talk about axillary freckling they mean plural. A single freckle is more likely to be a mole or just and abhorrent freckle. In my experience CALs get darker as time goes on particularly from early childhood into adolescence. Scoliosis can also be an independent condition although it is also associated with NF.
If you are very concerned then it is probably worth asking your GP for a referral to a dermatologist or a neurologist who may have more familiarity with NF. Good Luck

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CALs can definitely fade with age...both in NF patients and non NF patients. Some studies have shown that CALs are more likely to be present in NF children than in NF adults. However, it doesn't sound like you are sure that you ever had the required number of CALs.

As the previous poster stated it is difficult to know what the significance of the spot under your arm is. The criteria for NF states axillary freckling (plural) without indicating how many specifically. I have heard some doctors who insist that there have to be at least three which seems in keeping with the criteria but I also know of other cases where well known NF doctors clinically diagnosed a patient based on CALS and one axillary freckle. However, no one is going to diagnose you on the basis of one freckle and no other signs whatsoever.

Generally the entire clinical picture has to be taken into consideration and what you are describing certainly does not scream NF to me. Usually by your age we would expect that you would have met criteria. As Andrea mentioned there are other disorders with CALs. Also someone with mosaic NF (NF is not in all of their cells) could have extremely mild NF and never develop tumors.

Actually, I'm more interested in what you said about being worried about what is going on with your elder daughter...what's the situation?

Cindy

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Thanx a lot for your replies! I can't say what a relief it is to ask about NF and NOT to hear in response that you are stupid/paranoid/speaking about a non-existing problem.

Andrea,

I read about the "Wood's lamp" in English only. I've never heard from anybody in Russia that his/her skin was examined with it. Never heard any doctors mention the Wood's lamp. Anyway, I'll find out if it can be obtained. Good idea!

I live in St. Petersburg, and genetic testing for NF is kind of available in Moscow. I called them, and they said the method is pretty expensive (only twice cheaper than in the UAB:)), but not reliable - 60%. Actually, that's nothing. Moscow laboratory is not the University of Alabama...

I even wrote to the CTF team:) They said, technically blood could be drawn in St. Petersburg and shipped to the UAB. I was very enthusiastic at first, but then counted that the shipment would be far too expensive. Cheaper to go there personally, which we can't now afford.

Deebly,

I 100% agree with you that the best option is to find an experienced doctor. The problem is - we just don't have such doctors:(

In the former USSR genetics was not in favour, it was declared a "pseudo-science". I read that during Stalin times several major scientists were arrested. Genetics is developing now, but it will take long before it reaches a good level. Believe me, I have serious grounds not to trust our geneticists.

I came to your forum not BEFORE, but AFTER I failed to find someone really familiar with NF here. Noone in Russia knows about NF. Doctors usually have heard the term, but the majority of them openly admit they have never seen it. There are a few who claim they are "NF experts", but they are FAR from it, to put it mildly.

I came across a couple of very short topics on the Russian medical forums about NF. Parents have the same problem I faced - no real specialists. The information in Russian is very incomplete and incorrect. E.g., that certain pills can stop nerofibromas from appearing and growing, that NF can never be diagnosed before puberty, that most NFers need psychiatric help (for they are mentally retarded), that a blood test can show how severe the case is going to be, etc. I'm sure, in Russia NF is not diagnosed properly at all.

Cindy,

I am very fond of your posts:) You do know a lot!

You are quite right - I don't remember the number of CALS I had once. My parents don't remember it either.

You are right again - I am here for my elder daughter. I wouldn't worry for my freckle much. It's pale, and though I often wear tank tops and sleeveless dresses, noone ever noticed it (even my husband never paid attention). Something very strange is going on with my girl's skin. I'm sorry, I'm getting too emotional every time I talk about it. I don't have support from my family - they all are convinced, pigmentation changes are nothing serious. No experienced doctors, no community on the web, noone around. I'll come back after my crying session :) I'm sorry again. And thank you.

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I'm sorry that you're so upset but if you can tell us what is going on someone here may have some suggestions. It may not be what you think......

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I'll ask about my daughter in the same thread?

She is now 8 years old. She was born healthy, walked and talked early. When she was several month old I noticed a small white spot on her back (ignored it) and a small (3-4 mm) growth on her earlobe. The surgeons told us, this was a hemangioma, nothing should be done, just watch. This "hemangioma" (if that's what it is) is still there, unchanged. It seems smaller, but it's just that the ear and the head got bigger.

At 4,5 yo my daughter developed a rash which looked like oval freckles, 1-3 mm in diameter, on her torso, neck, legs, arms. Our GP assumed it was NF (the first time I heard that word). My kid was checked by an ophtalmologist, orthopedist, neurologist. Each found her healthy. We had an appointment with the geneticist (NF expert, they claimed) . She looked at my daughter's skin, said it was sure NF1, promised CALS would soon get larger, the kid would have high blood pressure, suffer from severe headaches, start loosing vision, etc. She looked at my skin, and noticed nothing abnormal, though she obviously wanted to diagnose me too:)

So, the "NF-expert" diagnosed NF based on just one criterion - CALS. To be more specific, based on her assumption that CALs would enlarge.

Once, after a hot bath, some of my daughter's "CALS" turned into itching hives - red and swollen. I took my daughter to the dermatologist, and she explained to me, my child' case was Urticaria Pigmentosa, a form of cutaneous mastocytosis. Also a rare disease, which has nothing in common with NF(?). The brownish spots on the skin turn red, swell and itch when rubbed or exposed to heat. The Derm. named it a "Darier sign", a phenomenon unique for Urticaria Pigmentosa.

Recently several different hyperpigmented areas appeared on my daughter's skin. They are very much alike to those described on the CTF forum http://www.ctf.org/forum/viewtopic.php?f=2&t=28091&sid=f65ef4182273dd38352c cbdf1900ea58 (I couldn't register there). My daughter's armpits and groins are clear, but she probably has "cafe-au-lait spots". Three of them are fairly large ~2-4cm, four are small ~4-5 mm, though I can't be sure. One, on her thigh, I could describe as NF-like; one, on her back, has very ragged borders; others are very hard to measure and count, as they are very irregular in shape and color, the border lines are not sharp, you can't see exactly where the spot begins and where it ends. And they seem to change, depending on the angle from which you look at them. A picture can be taken only with a professional camera, I guess, which I don't have.

The dermatologist assures me, these spots are not dangerous (true, they don't itch or swell). She insists, they can't be associated with neurofibromatosis. Still, I am extremely worried - our dermatologists don't know much about NF. I came across an article, that UP may cause NF-like conditions and neoplasms in individuals http://content.karger.com/ProdukteDB/produkte.asp?Doi=69940. All the time we've been told by doctors that children usually overgrow UP near puberty. Now, I fear puberty...

My daughter underwent X-rays of skull and long bones, various blood tests, ultrasounds of different organs, EKG. All came clear. She is in a ballet school (ballet, unlike genetics, has long tradition in Russia, and it's like doing sports seriously). Neither teachers, nor choreographers complain, I assume, we don't have learning difficulties.

All seems fine with my daughter, untill you take a look at her skin. This summer was hot, a couple of new spots (or one larger, I can't exactly say) appeared on my daghter's arm, near the elbow. I can't belive, it's not a reason to worry.

Can NF CALS be pale and "atypical"? Have you ever heard about NF-like conditions in other deseases? Or about a combination of NF with other skin disorders? I'll be very grateful for any suggestions! And again, I'm sorry for being so long and emotional.

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Yes, sometimes NF CALs can be pale and atypical. Many people with lots of CALS have one or two that don't fit the standard description. However, if most of the CALs are not typical of NF then chances of your daughter being diagnosed with NF are greatly reduced. As Andrea indicated CALs and freckling which appear typical of NF also occur in another less common disorder called Leguis syndrome also known as spred-1. But I'm not convinced that any/many of your daughter's spots are typical of NF.

You wouldn't be the first person to have a child with Urticaria Pigmentosa be diagnosed with CALS in error. And yes there have been some rare cases where both conditions have occurred in the same child. It could be a chance association or as the article you posted mentions it could be because mast cells are implicated in both disorders. However, that is quite a rare finding. If your daughter had no skin hyperpigmentation before the age of 4 or 5 then that would definitely not be typical of NF either and statistically speaking the majority of kids would have more signs by the age your daughter is now.

Is the "hemangioma" red or skin colored? It could simply be something like a preauricular tag, a fairly common minor anomalie. Unless you have it biopsied and it comes back as a neurofibroma I would not assume that it is anything to worry about. What have the doctors said about it more recently?

Have you seen the dermatologist since these new spots on her arm appeared? Do they also behave like UP? There are other skin issues that can occasionally resemble CALS. Tinea Versicolor can at times have a brownish, CAL like tone to them and they occur commonly in children during the summer months and are made worse by heat.

I'm a little skeptical that this is NF but if the genetic testing is the only thing to put your mind at ease why not look into testing that might be closer to you. If not in Russia then in the UK or elsewhere. I see a Russian professor by the name of Nikolay Bochkov from Sechenov Moscow Medical Academy comes up in the literature from time to time. Perhaps he could direct you to someone with some expertise?

All the best,

Cindy

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Dear Cindy,

you've been very helpful to me! I regret, there is nothing I can do to thank you for advice:)

Of course, you couldn't clear up the whole situation with my child's problem, but you did a great thing - you cleared up the mess I had in my head.

I guess now, I've been searching in the wrong direction. My efforts were concentrated on finding an NF expert, but perhaps I must start with another dermatologist (isn't difficult to find here). I don't say our doctor (we've been with her for the past 3 years) is bad. Her primary concern is to watch that mast cells don't proliferate on other organs and stay on the skin, and she ignores my worries about other strange hyperpigmented patches and sort of pushes me aside with my questions. It won't be bad to get the second opinion (even the third, if necessary) from the derms. In case no rational explanation is given, I'll return to the possibility of genetic testing (we could go to Germany for it, hope the methods there are more reliable than 60 % in Moscow).

I can't say genetic testing is now the ONLY way to calm me down:) After this discussion I think we might really need not a genetic test, but some other test... I see that skin pigmentation disorders are so numerous, that before suspecting an "atypical NF" I must check many other options.

The "hemangioma" is skin colored. We see surgeons on a yearly basis, they say the same every time - don't worry, nothing dangerous. The biopsy has never been offered. Shall I insist on it?

We haven't seen our derm. yet. She says, we should show up in Sept.-Oct., after the hot months are over. The newest spots don't behave like UP. I googled for the pictures of the disorder you mentioned. Our spots are not that large, they don't cover the whole arm or shoulder, but the borders are somewhat similar. That's why I can't count the exact number of spots - just can't see if it's one larger, or several smaller merging into one.

All UP spots are alike in shape, color and behaviour, they vary a bit in size. Other spots seem to be VERY different from them and from each other. Strange, anyway...

I talked to N. Bochkov on the phone several years ago, when trying to find an NF specialist in Moscow. It took a couple of minutes, he sent us back to where we came from. Sounded too busy. I didn't know he works with NF, in all his interviews he speaks mostly about the Down syndrome. Like, "prenatal diagnosis is very important, so that pregnancy could be terminated". I personally know a couple of families here who refused to terminate pregnancies and healthy children were born. Genetic tests are not very reliable in my city... Besides, to terminate pregnancy is usually not a very good thing to do:)

I value your opinion very, very much now! If I get no clues from the derms, I'll try to contact Bochkov again. And will be more assertive!

I won't say I'm 100% sure me and my daughter are NF-free... But I see now there are many other possibilities to problems with my daughter's skin. Besides, I misinterpreted the term "freckling". And I was glad to learn that people of my age don't develop numerous symptoms even in case of mosaic/segmental NF:)

I spent the whole day yesterday and the whole night reading this forum. The very atmosphere, the warmth and welcome, the compassion and sympathy - are just amazing. Plus, the people here know quite a lot! I am happy I found this place when I was puzzled, lost, frightened. It seems, you showed me the way out.

Thanks!!!

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My 5 year old grandson has had cafe au lait spots, although faint, since birth, and now groin freckling.
No other signs. Pediatrician is easy going. Is it productive for him to have a thorough medical evaluation now by specialists, especially for eye and bone issues, or wait and see? Genetics tests?
Thank you

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I am sorry for jumping in like this and forgive me for adding this without reading all the comments for this discussion. I have read about another condition called mccune-albright syndrome that is characterized by CALs that are different from NF CALs because they usually present w/jagged edges.

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Lark94939, since you grandson may possibly have two diagnostic criteria, it may be a good idea to investigate further. I would bypass any other specialists (dermatology etc..) and see if you can find an NF clinic in your area. A great site is ctf.org for very accurate info. I would also certainly get an opthamology evaluation in the meantime as well. How many CALs does your grandson have?? At what age did you notice the groin freckling? Good luck and keep us posted.

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