Neurofibromatosis - as an adult?

[anomoony]

So I know neurofibromatosis is usually diagnosed when you're very young, but can they sometimes miss it? I am 43 and I have some "possibly neurogenic" small tumors that need watching. And I also just realized I have 4 cafe au lait spots, plenty of freckles on my torso especially around my breasts, skin tags, and very short stature. But the internet keeps telling me if I had NF I'd know it.

My youngest also has three cafe au lait spots so I also worry for him.

Hi there. I’ve stumbled across this thread by searching for information on NF as my paedatrician suspects my baby has it.

From what I’ve read it is fairly frequent that some people don’t get diagnosed until later in life if they are only mildly affected. I’ve send quite a few research papers where patients have only presented themselves in their 30s or 40s which gives me a lot of hope that it can in some cases that it can be mild.

I would definitely get both you and your son looked over.

I was diagnoses in my 40's.
I had some growths, I showed to doctors and even dermatologists over the years and was told they were skin tags, other were cysts, fibroids and so on. I didn't have many between 5-10

A very easy way to look for NF1 is to have someone looks at the iris of your eyes and see if there are cone shape growths called Losch nodules. These are unique to NF1

To 100% confirm it , you can have a blood test and check for any mutation on the NF1 gene.

And to answer your question, yes they can totally miss it. I was diagnosed by pure chance and mistake after I had one of the cyst removed as it was painful and the pathology report came back saying it was a neurofibroma.
You can also request - for a cheaper option - to have a biopsy taken from one of the tumours.

Genetic test is however the best way .

Would an optician pick up and mention losch nodes?

I've got a yellow ring around my iris on both eyes (otherwise blue eyes) and wondering if these are nodes or if they need to be more like spots? No optician has ever commented.

I've a lot of skin tags and a huge cafe au lait long mark across my pelvis. Just the one but it's quite big. Several skin tags and some endocrine issues.

The diagnosis process took quite a while and as I was waiting for the ophthalmologist referral, I just went to an optometrist and asked they used the slit lamp to check for the Lisch nodules. She couldn't find them. A month later, my appointment came through and I have Lisch nodules, it just takes expertise to find them if you have eye color with some brown in it. You don't check for the color, you must look for the cone shape. Lisch nodules are not usually visible to the naked eye you need a slit lamp. They are nor freckles.

And I was seen by ophthalmologist for very deep examinations in the years before, and none did ever mention seeing them. Unless you look for them, you can easily miss them.
My ophthalmologist told me you have to imagine a grid covering the eye and scan square by square very slowly.
In this article, you can find a description of the different types of cutaneous neurofibromas. www.nature.com/articles/s41416-018-0073-2/figures/1 They can look like thickening or a grainy imperfection, similar to skin tags or the most drastic form. You can have less than a dozen or thousands. The patients in the pictures have severe form.

@cloudchaos what have the doctors said when presented with your manifestations? And can I ask which endocrine issues you have.