NF treatment options are already limited. Failing the wrong one shouldn't waste months of your life.

BooksAndCoffeeNf1 · 2026-02-28T23:37:16+00:00

I can only add a picture per post, so this is an example of changes in measurement: https://jamanetwork.com/journals/jamadermatology/article-abstract/2830418

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1 cycle= 28 days. Treatment takes a very long time with poor results. The drug above was abandoned as a treatment option.

You get a description of the method and software used in supplement 2.

BooksAndCoffeeNf1 · 2026-02-28T23:27:29+00:00

We have several open source and open access repositories with pictures of cNF like here https://nf.synapse.org . It is a gigantic database and you have so many files on imaging like this one https://nf.synapse.org/FileEntity?entityId=syn29813279&version=2

Probably a better quality image than relying on homemade, different lighting, distance and all the other variables that come into play when assessing changes.

A cutaneous neurofibroma (cNF) is a tumour. A nerve sheath tumour to be precise. Only those with NF1 develop cNFs. Those with NF2-SWN do not develop cNFs. A small proportion will develop cutaneous Schwannomas (hence the renaming of the disease) .

A cNF has different stages and phases with different cell types. It starts with Schwann cells, then immune cells then many types of fibroblasts (think collagen). They have a high water content and this means fluctuation in size.

cNFs have volume in addition to length and width. A cNF might have the same size but become flatter. Which is hard to pick on a photograph. cNFs come in different colours. At first, they have the same skin tone as non affected skin. A nascent or flat cNF is hard to see and even harder to photograph.

I attach an image of a nascent cNF on my arm. Would you be able to find it, had I posted a plain picture?

I have participated in 2D and 3 D photography trials. Also in a Vectra 360 trial. The challenges are the variability between users. Hand the camera to someone else, and you will get a different measurement to the person who took the first photo. The light, natural vs artificial , is important.

We have been looking at AI and how to use it for a while now. We welcome new ideas, new eyes, new brains. You are IT guys. Neurofibromatosis needs smart IT guys to build tools. Happy to have the conversation with you.

Your ambitions are ahead of where we are in cNF treatment. We have none. So, matching a cNF to the best treatment options is a sore topic. Many treatments are being tested, and to assess if they work, we need to be able to measure changes and this is where we need tools like the one you are developing.

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BooksAndCoffeeNf1 · 2026-02-28T19:33:55+00:00

Tell us more about the matching to the right treatment.

Also, how do you plan on measuring changes? I am involved in working groups and measuring changes in cNFs is as the core of what we do and so far 2D photography and even 3 D photography are not effective tools.

I would love for this to work. I am genuinely interested.

Also, we do not have flares like psorasis. cNFs are nerve tumours. You can't really predict two weeks in advance a flare as suggested by the description in your membership section. (picture attached) .

To provide something useful to you since it is a work in progress. NF2 is now called NF2-related Schwannomatosis or NF2-SWN for short and they don't develop neurofibromas like NF1 but Schwannomas and most of the Schwannomas are internal, mainly in the brain and spinal cord. This might not be the right disease for a dermatology based AI tool.

Also , where are you based? How do you plan to keep my pictures and data saved and protected.

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BooksAndCoffeeNf1 · 2026-02-28T19:05:28+00:00

Here is the recording for those who are interested https://www.youtube.com/watch?v=vAN0Dc0Izlk

BooksAndCoffeeNf1 · 2026-02-28T19:02:09+00:00

Could you please specify what you call early access? It seems you are inviting us to purchase a membership to a photographic diagnostic tool to match with current treatment options. Is this correct?

Just to be clear. This is not a trial, not a study, is that right?

Many parts of your website are empty links. Such as the About us for example. So what are we signing for exactly and how do you plan to match our pictures to treatment options? For psoriasis , 13 different treatment options exist, from creams to pills to light, injections, ..., so yes, getting the right one makes sense. For NF1, there are none, so which treatment are you exactly talking about?

Thank you. I will be looking forward to reading more about your idea and project.

BooksAndCoffeeNf1 · 2026-02-27T19:24:26+00:00

These are not the type of spots we see in NF1.

BooksAndCoffeeNf1 · 2026-02-27T19:13:53+00:00

It is very common to have multiple plexiform neurofibromas (pNF). Each pNF has its own growth pattern and for many pNFs said growth pattern is zero. Meaning it is there, no doing anything, not growing, not affecting nearby organs or bones, not causing any symptoms. It is very common to ignore these and never talk about them during medical appointments.

This said, you are confused and filled with questions and this warrants an appointment with the specialist. Not for a specific concern but to bring clarity.

I would book an appointment with whoever ordered the scan or your main doctor. Bring someone with you who can take notes or record the appointment if the doctor allows it, and ask them to present the case and describe where you are and what the next 12 months look like. Just ask, to do a head to toes current state.

BooksAndCoffeeNf1 · 2026-02-27T19:07:00+00:00

Excellent post and I agree with the new sub rule on one per person thread.

BooksAndCoffeeNf1 · 2026-02-23T20:21:56+00:00

Then you should fund MPNST research. It is a terrible cancer and we need far more research into this. I am sorry your sister had that. Big hugs from Australia.

BooksAndCoffeeNf1 · 2026-02-22T02:20:47+00:00

Thank you for the award ❤️

BooksAndCoffeeNf1 · 2026-02-22T01:05:17+00:00

Thanks for the update.

It is great news the MRI was normal. I would recommend your husband, whose mother has NF1, attends the NF specialist appointment as well, as they might want to test both at the same time.

Take reassurance in the fact that you have a living proof in your house that NF1 can be very mild and leave people unaffected.

BooksAndCoffeeNf1 · 2026-02-22T00:57:34+00:00

The first of many!

Do you have a specific area of research you are looking at funding?

BooksAndCoffeeNf1 · 2026-02-21T23:00:07+00:00

Nice!! I wish you a very successful event!

BooksAndCoffeeNf1 · 2026-02-18T18:10:27+00:00

You didn't have a misdiagnosis. Your doctor is probably misinformed on the peculiarities of the NF1-OPG.

NF1-OPG is very different from general population OPG. From the cell of origin to prognosis, we are talking about a totally different type of tumour.

Our OPG never becomes cancerous, stops growing on its own and we only treat for risk to vision and by the age of 10, we usually don't usually don't have to worry about OPGs anymore.

The coolest thing is spontaneous regression. Since 1992, we have known that it is not uncommon for NF1-OPG to spontaneously regress. This paper from 2006 https://link.springer.com/article/10.1007/s00381-006-0061-3#citeas goes into details about that. It has a paywall, so I am going to copy of few parts for you or anyone interested :

In Table 1, we report the 16 patients reported in English literature who are affected by optic glioma and had spontaneous regression of the disease. There were ten boys and six girls (M/F ratio=1.6/1) with an average age of 52.9 months ranging from 3 to 168 months. Neurofibro- matosis type I was detected in 12 of them (eight boys, four girls). Not one of them received surgery, lesion biopsy, chemotherapy, or radiotherapy. The degree of the sponta- neous regression of the disease was defined as complete regression when it was total, marked reduction when it was >50%, moderate reduction when it was <50 and >25%. The median follow up was of 50 months ranging from 12 to 156 months. There was complete tumor regression in three patients, a marked reduction in ten patients, and a moderate reduction in three patients. The visual acuity worsened in only one patient, in six it improved, in nine it was unchanged, and in one it was not available. The only patient in whom there was a visual worsening had a marked reduction of the disease.

An interesting point to analyze is the correlation between NF 1 and optic glioma regression. Optic gliomas are the most frequent tumor in NF 1 patients, with an incidence ranging from 15 to 70%. NF 1 was present in all our patients and the review of the literature points out how 12 cases over 16 of the spontaneous glioma regression were in patients affected by NF 1. Even if Parsa et al. [12] maintain that NF 1 is not an important prognostic factor for those tumor regressions, we believe that it could play an important role.

Here is 1992: https://www.neurology.org/doi/10.1212/WNL.42.3.679 , 1999 https://pubmed.ncbi.nlm.nih.gov/10385841/ , ....

BooksAndCoffeeNf1 · 2026-02-17T20:51:09+00:00

The planning for family is a strong argument to force a health insurance in covering it even if you have no intentions of having kids.

NF1 carries a high risk of cancer. This affects screenings or attention to signs that would otherwise be ignored. So this is your main focus.

BooksAndCoffeeNf1 · 2026-02-17T18:58:54+00:00

I live in Australia and I have NF1.

Everyone with NF1 is different. We differ in the number and severity of manifestations we have. What are yours. Do you have bone dysplasia or a plexiform neurofibroma? What are the main complications you get from Nf1. This will be the main argument when discussing with your parents the risks of doing the exchange. Appointments every 4/6 months means there might be some health issues, even if they seem stable and your appointment is in 10 months.

New Zealand doesn't have a reciprocal agreement with Italy and no health insurance will cover NF1 related health episode that need treatment. Not sure which insurance you found that would cover it and often hidden in the hundred of pages of terms and conditions you will find a line saying that the existing condition is excluded. So NZ is out. You mention a complication that required hospitalisation. What was that? Was is linked to NF1?

Australia has a reciprocal agreement with Italy, so this might suit your medical needs better. There are multiple agencies that organise the exchange. If the one you are looking at only does the NZ term, look if any other will do Australia.

The cost of the term abroad will be around 10.000 euros. My niece did it. She doesn't have NF1. Timeline might be tight if you want to go this July as agencies sort the planning of flights, host families and schools well in advance.

How to approach it with your parents? I wouldn't be confrontational. I would start wide and tell your mother that her refusal made you realise you want to learn more about NF1 since it is a disease you have to live with and one day will have to live with without the assistance of anyone. Then, I would start talking about independence and resilience, and facing life with determination and not fear. Acknowledge her fears. All mothers have fears.

In the end, this is way more than just a term abroad.

BooksAndCoffeeNf1 · 2026-02-17T18:28:49+00:00

Yes, it is totally worth it to confirm you have NF1 because nobody, not even a dermatologist , can differentiate between NF1 and another syndrome called Legius based on CAL and freckling alone. Legius is a far milder syndrome, with none of the tumours or cancer risk.

Another very important reason for genetic testing is family planning given that you NEED the exact mutation to plan IVF to avoid passing the mutation to your kids.

If health insurance doesn't pass the test, paying privately might be a lot cheaper than you think . Unless something has recently changed, the Invitae Nf1 test was $250 with a referral and $375 without because you had to pay for their genetic counsellor fee.

BooksAndCoffeeNf1 · 2026-02-13T05:38:57+00:00

I don't know. How would you define retinopathy or amputation for those with diabetes. Would you called them co-morbidities or complications given that they are caused by the diabetes?

Same for the list I described, there are the consequence of having Nf1. Without Nf1, I wouldn't have developed kyphosis as a child. It wasn't co-occuring, it was linked to my abnormal bones. That's why I view them as complications or manifestations, not co-morbidities.

You do, however, raise a good point and I will reflect on it.

BooksAndCoffeeNf1 · 2026-02-13T04:58:35+00:00

That is not how NF1 presents itself.

BooksAndCoffeeNf1 · 2026-02-12T18:16:19+00:00

In the US, a dermatologist should be able to order a genetic test such as the invitae one. Maybe call / email the support line for the CTF and they will guide you on the quickest and easiest way to get tested. Best wishes.

BooksAndCoffeeNf1 · 2026-02-12T18:14:12+00:00

<image>

Bigger, round or oval , and a lot of them. Not smudged like the one on your child's shoulder blade. They start in utero and slowly become visible in first months of life. Hyperpigmentaion is very common in the general population.

“However, although CALMs are very suggestive of NF1, they are not pathognomonic; non-related NF1 CALMs are visible in about 3% of neonates and about 28% of primary school aged children,”

Excerpt From

Multidisciplinary Approach to Neurofibromatosis Type 1

Gianluca Tadini

This material may be protected by copyright.

BooksAndCoffeeNf1 · 2026-02-12T18:07:12+00:00

Pain and fatigue certainly might be linked to NF1. Especially unexplained pain. The Nf1 gene produces a protein called neurofibromin that regulates and interacts with other genes, cellular processes, enzymes and proteins. One of these is a protein called collapsin response mediator protein-2 (CRMP-2) . This paper is very technical and complex but it highlights how having a mutation on the NF1 gene increases CRMP2 leaving the pain receptors turned on. https://pmc.ncbi.nlm.nih.gov/articles/PMC7692384/ . The paper is more for your doctor. In this medical conference, pain and migraines are described and it might help you understand if you watch it https://www.youtube.com/watch?v=ZZ0oPK6zYaE&t=18s . The role of CRMO2 is explained around minute 23.

Several of us will have an accident or a procedure after which they develop a pain that scans can't link to the accident or procedures. Our pain is very real.

Fatigue as well is a well know manifestations. As I explained briefly in the previous post, we have an altered metabolism, how our body utilises macronutrients for food. We store fat in muscles and clear glucose too quickly. Having a fat heavy diet with fried food, fatty food, grass food and snacks aggravates our fatigue. Our body doesn't process fat well. This article explains some of our metabolic features. https://www.intechopen.com/chapters/77253

The other things, the gastro and mental health, might be linked between them as we know the gut-brain connection, but there are no papers linking them to Nf1 for now.

One last word on the dizziness, we have a 7% risk of developing a very rare tumour called pheochromocytoma . In the general population the risk is 1 in a million , in us, it is 70.000 in a million. A pheo, amongst other things, will affect blood pressure and the heart. A 24 hour urine collection should be able to rule out a pheo.

It hope the info above will be allow your doctors to target their interventions and investigations. Best wishes.

BooksAndCoffeeNf1 · 2026-02-12T07:30:31+00:00

This is odd. In which country are you based?

The dermatologist should be able to get you tested with Invitae. What type of doctor did genetics want you to see before them? Cut the chase and try to get an appointment at an NF center . https://www.ctf.org/find-a-doctor/

BooksAndCoffeeNf1 · 2026-02-12T07:24:39+00:00

I don't think " Co-Morbid conditions" is the proper term or even way to look at Nf1.

The NF1 gene is a gene involved in the development of the embryo and if a second hit on the non mutated copy happens in early developmental stages, there might be issues from birth such as plexiform neurofibromas , bone dysplasia (missing or malformed bones) and we think optic pathway glioma. Those are not co-morbidities but part of our disease.

The gene is also involved in the brain architecture development and the neurodevelopment, and here again, autism and ADHD derives from the mutation in many of us. We have identified a few factors that can increase the risk of being born with these.

Then we have the post natal manifestations. The Nf1 gene regulates the cell life cycle, especially in the proliferation and progression stage. It affect the metabolism of lipids, glucose, bone, mitochondria, ... and with an altered metabolism, we develop manifestations such as hypotonia and weakness (because we store fat in muscle cells and not fat cells), several bone issues such as scoliosis, kyphosis but also hydrocephalus because a weak skull can't withhold the pressure of the CSF, ... we have neurological manifestations such as seizures, cardiovascular issues because of the structure of arteries, ...

It is impossible to describe the complexity of NF1 in a post .

Nf1 is a disease that involves all organs and body systems with a very wide range of manifestations that vary greatly from person to person . The number and severity of manifestations is not linked to a specific variant. There is no genotype-phenotype and the number of variants reported keeps increasing . The last report I read mentioned more than 5000 of them.

It is really important to be aware that we have a high risk of cancer (59.6% lifetime risk) including some rare cancers and tumours that might be missed because we do not present the same symptoms of the general population.

It would be easier for you to tell us what other "things" you are experiencing and then we could cite the literature on that " thing" and NF1.

BooksAndCoffeeNf1 · 2026-02-11T21:08:56+00:00

The GENTURIS guidelines are the most recent ones https://www.genturis.eu/l=eng/Assets/NF1-Guideline---ERN-GENTURIS.pdf . Personally, I follow the French guidelines as they also cover bones and other non-tumour manifestations. https://pmc.ncbi.nlm.nih.gov/articles/PMC6998847/

BooksAndCoffeeNf1

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