Neurofibroma under skin question

[Huskyy]

Hello!

Has anyone experienced under skin neurofibroma? Trying to figure out whether to have it removed or not. One on the back. No pain, but wondering if it shall get bigger in size.

If removed, can it have risks, to somehow harm a nerve?

Thank you

[Adlon57]

Yes I have Schwannomatosis or NF3 whereby I get benign tumours/schwannomas underneath my skin, actually grow on my nerve 'canals', on my arms/hands/trunk/ legs I have had this condition since the age of fourteen, had three operations to remove especially bad ones on my left forearm, left elbow [about the size of a large baked bean],and on my spinal cord [about the size of a walnut] I myself found when I was aged circa in my 60's they would deflate, still there but in a gelatinous size, the pain was caused by the movement of the schwannoma attached to the nerve canal rubbing against the inner surface of the immediate surface of the skin, sometimes a red or coffee mark would appear on the outer surface of the skin, usually about 2-3 cms of the offensive schwannoma. I am looking at one now, midway up my right forearm, which formed circa seven years ago, I am aged 67, this was the first one to deflate. The first schwannoma in 1970, was just a small annoying "lump" about the size of a grain of rice, never really worried about it? The second one in 1995 was on my spinal cord, x-rays did not show anything, I was to be institutionalised, the MRI's arrived in 1997 I had surgery [the notes of this were lost🙄], I was not 'diagnosed' as Neurofibromatosis until 2006, then in 2008 another schwannoma on my elbow arrived, but not until I changed my GP😤🙄, I had surgery in 2012, to remove it, side effects of this was 50% use of small finger left hand🙃. In 2016 after confirmation that I had Schwannomatosis or NF3, eventually I have my own personal specialist in 2017 [a good friend👍]! A very rare medical condition, it could be [Neurofibromatosis NF1 or NF2] I would get in touch with a neurologist to help diagnose it?

[hunter5582]

Welcome to the very small sub-club of people with MPN + NF. There are only a few of us in this club.

For those not familiar with Neurofibromatosis there are three basic types. Neurofibromatosis Type 1, which has over 4000 known gene variants. This is a germline gene mutation located on chromosome 17. Neurofibromatosis type 2, now referred to as NF2-related Schwannomatosis. Schwannomatosis is a germline mutation located on chromosome 22. The last type of NF, sometimes referred to as NF3, is the other type(s) of Schwannomatosis. This breaks down into SMARCB1-related schwannomatosis and LZTR1-related schwannomatosis. There is also 22q-related schwannomatosis, Schwannomatosis NOS, and Schwannomatosis NEC.

Neurofibromatosis is sometimes called a tumor disorder since various type of tumors are one of the more common symptoms; however, NF is a multisystem disorder that can cause problems in a wide variety of body systems (skeletal, cardiac, adrenal, neurological, hearing, vision, increased risk of cancers, and more). One thing of note is that the NF1 mutation can cause another type of MPN that is not as commonly encountered, Juvenile Myelomonocytic Leukemia (JMML). Also of note, the NF1 mutation is a non-driver mutation in MPNs that increases the risk of leukemic progression. One study showed that about 16% of people with PV have a somatic NF1 mutation but not the germline NF1 mutation that causes the NF1 condition.

The question of whether to remove a neurofibroma depends on a number of factors. Which type of neurofibroma is this? If it is a plexiform neurofibroma, is there any sign of progression to MPNST? How large is it? Is it growing? Where is it located? Is it causing pain or any functional impairment? Cutaneous neurofibromas can be removed with little risk. Plexiform neurofibromas are peripheral nerve sheath tumors. By definition, they are growing on nerves. Removing them will almost always cause some degree of nerve damage.

It is very important to consult with a NF1 specialist when managing neurofibromatosis. NF is a rare disorder and expert input is needed when treating it. The surgery to remove a neurofibroma needs to be done by a surgeon who is experienced in treating NF. These surgeons are usually associated with a comprehensive neurofibromatosis center. Much like MPNs, NF is a condition that is best managed by care team that specializes in this condition. Just in case you need it, here are lists.

USA

nfcollective.org/find-a-doctor

ctf.org/understanding-nf/fi...

Europe

ctf.org/europe/find-a-docto...

Hope that helps. Wishing you all the best.

[Huskyy in reply to hunter5582]

Thank you to both replies.

Question: how can one know if it's cutaneous OR plexiform?

No pain. Spotted last summer, because of tiny itching, then. Has not grown since. On the back. "Moving" underneath the skin. Has been examined, status harmless. MIGHT be harmless neurofibroma, under the skin.

[Adlon57 in reply to hunter5582]

Thankyou Hunter for explaining a very complicated subject👍

[hunter5582]

You should be able to tell based on its presentation. It sounds more like a pNF than a cNF but i would have no way to know. Did you have it assessed by a NF Specialist?

FYI - note that I do not have any neurofibromas but have had 7 lipomas removed. We can get other lesions that have nothing to do with NF.

[Huskyy in reply to hunter5582]

Not by a nf specialist, but by a hospital doctor, who was able to say that it is not anything harmful, after it being checked in few ways.

What makes you think pNF?

(I also had 1 lipoma removed earlier, which was growing. And because of that experience, I opted for removing this "non serious, possibly a neurofibroma" one too. In case it grows.

- Which I now wonder if it's necessary after all.)

[hunter5582 in reply to Huskyy]

It can be difficult to determine what something is without a biopsy or resection. "Not anything harmful" is not an actual diagnosis. There are a number of different benign lesions. The question is about that this lump actually is. Many doctors are unfamiliar with how NF presents, which is why consultation with a NF specialist is important.

I have two remailing lumps under the skin which I expect are likely more lipomas. The NF specialist looked at them and thinks they look like some pNFs she has seen; however, the NF1 variant that I have (NF1:c5425C>T (p.arg1809sys) does not typically cause pNFs.

The issue of whether you should have it removed may have more to do with how worrisome you find it. It sounds like it is a benign lesion of some sort, which is what the doctor told you. Given your history of a prior lipoma, I would be suspicious that this is another lipoma rather than a pNF. The only way to know is to send tissue in for analysis.

Wishing you all the best.