New mark on daughter?

[Pinklemonade16]

Just noticed this pigmented mark on my daughter. It’s only appeared today. Looks like pigmentation but why would it randomly appear. That part hasn’t been in the sun. Is it normal? Just being over paronoid with everything going on. Thank you

Picture

I'm not a doctor but looks like a birth mark ? Strange it's just come up though ? Maybe get it checked

Cafe au lait spot. Only an issue if she develops lots of them under the age of 5, I believe (in which case have to be investigated for genetic syndrome).
Disclaimer: not medical.

My DD has quite a few of these, which have appeared over the years since she was a toddler (she is now a teenager). I was worried about neurofibromatosis (NF1). The GP referred her to a paediatrician, who also wasn't sure. We ended up having her seen by the specialist NF clinic at Guy's hospital.

We were told that it is very, very, very unlikely she has NF. She has no lisch nodules in her eyes (confirmed by opthamologist), she has no freckling under her arms or in her groin, and no NF nodules - just these odd pigmentation marks.

We were also told that there are hundreds of genes which control skin pigmentation and it was most likely that she just had some random (harmless) mutations in some of these.

I hope that helps. The patches my DD has are very similar to the one in the picture you posted - quite irregular shaped. The ones in sun exposed places are more obvious in the summer. NF pigmentation I think in general tends to be more regular shaped. NF patches also tend to be more numerous, so if your DD has only that one patch, it is unlikely to be anything at all.

If you look at the some of the NF forums, you will see numerous stories of children with these patches, whose parents have worried that they have NF, but they don't - they just have these pigmentation patches.

Oh, and apparently these irregular patches tend to appear more in children who have more freckly complexions and on the red-headed spectrum (which my DD is)

Wow thanks everyone I hadn’t even heard of the NF disorder thing. Just looked it up now I am shitting myself. Do I need to get her checked or just keep an eye on it?

@Pinklemonade16 I have Nf1 and don't have a single cafe au lait.

Having a lot of them might be an indicator of Nf1 or of a condition called NF1-like syndrome which is called the Legius syndrome which has no impact on health.

Before the Nf1 genetic test was invented, there was a list of criteria that was used and you had to have at least 6 cafe au lait + other manifestations. Lisch nodules is not a good one as they appear later, hardly ever before the age of 6, more likely around 10 - 12 and for sure around the age of 20.

10 % of the population has at least one cafe au lait spot. It is just hyperpigementation and will usually fade in adolescence.

OP if your dd has one spot, it's cute and means nothing.

The diagnostic criteria for Nf1 will probably be revised because they are too old and do not reflect what we know now, but these things take years if not decades. I don't have the inguinal or armpit freckling , and my Lisch nodules are undetectable unless you are a specialised ophthalmologist because of my eye colour and because I only have a cluster of nodules in the top left corner of my left eye and none in the right eye. Yet a genetic test proved I have it.

I would just keep an eye on it, especially if it's just the one patch and no other symptoms. My daughter had loads of them, and it was still nothing.

Maybe wouldn't hurt to mention it to GP next time you take your DD in for something but I wouldn't panic (easier said than done, I know!)

Hiya my daughter had a condition called septo-optic dysplasia and her pituitary gland was very badly affected.
She developed the cafe au lait mark on her right side. She only ever had one of them but our paeditrician immediately referred us to endocrinologist and she was later diagnosed with Addison’s disease.
She was kept in hospital whikst the tested her endocrine pathways as they also found she didn’t produce enough cortisol in times of stress.

Without the cafe au lait mark we wouldn’t have had our routine 3 yr endocrine tests brought forward and noticed lack of cortisol.

All related to her underlying condition of S.O.D.

It is probably just a birthmark but it’s best to take her to your g.p

I think I remember correctly that endocrinologist said you can get the cafe au lait marks at any age too

Not to hijack but...Testtube - I had never heard of septo-optic dysplasia but my son has optic nerve hypoplasia, and had a pituitary tumour and is cortisol/GH deficient as a result. My jaw dropped reading when I googled septo-optic dysplasia as the drs have never mentioned it. His optic nerve hypoplasia was only discovered 3-4 years after the tumour. He had nystagmus also.
He just had an endo appointment but I will ask about this at his next one. I hope your daughter is doing well on her treatment.

My daughter was diagnosed at 10 weeks old as she was completely blind but had a small bunch of nerves in one eye. Through university colleagues and friends of friends I was told that the brain could rewire it’s self. I managed to get a grant from RNIB for fibre optic lights and through sure start was out in touch with our local blind school when she was 6 months. I tied the lights around everything and did eye excercises with her and at 10 mths she started been able to track me. She went onto develop some sight.
But we were told if she had the septum in her brain she would have bilateral optic nerve hypoplasia. I think they are wanting to change the name of SOD to ONH as both conditions carry the same health risks.
Is your little one also on the autism spectrum as mine was. Though it didn’t follow the full autism traits and meant she became very violent but more so because of her sensitivity to her senses and lack of understanding of faces and situations due to her sight

So my husband has corrected me that it's foveal hypoplasia, not optic nerve hypoplasia which our son has - as well as optical albinism and nystagmus. His vision is ok but has worn glasses since 7 months old - he gets his work enlarged at school and has difficulty with the board... but he manages pretty well. He doesn't have autism - I imagine that must be a challenge to deal with. How old is your daughter? He has separately had some horrendous GI issues which required surgery (complex fistula, suspected crohns disease, thankfully these problems haven't recurred). I wonder how all this could be related genetically.

How old is your little one?

Looks like a cal spot. As others have said, only a worry if she gets lots. Having one is pretty common. But does seem odd that it's suddenly just appeared. I was always under the impression kids were born with them, or developed pretty early in life.

Blackswan we were told after her MRI scan at 10 mths they didn’t understand fully the relationship between the missing septum palucidim and problems that then occurred. As the septum looked like it seperated left side and right side of brain.
We were very lucky with how little it had affected her. Unfortunately due to complications of a tumour they said was unrelated she passed away in aug 2018.

Does it wash off? If not discuss with your doctor if you have any concerns about learning or development, if more appear or if either you or her other parent have any.

As others have said it's a café au lait mark, they are hyper pigmentation. My DH and DD both have them but they have NF1.

Another coming along to say looks like a Cafe Au Lait Mark. My DS has a condition that is usually linked to NF1 - which he doesn't have. He has one CAL mark and we've been told this isn't enough to diagnose him so fingers crossed it's just one of those things for your DD too x

@namechangenumber2 would you please tell me the name of the condition linked to Nf1? Even in private message if you prefer. I am Nf1, and there are so many dark corners about what is known and so little information available, I would like to learn more about this as I don't know of any condition linked to Nf1 unless you mean manifestations such as glioma, scoliosis, learning disabilities and so on.

@LeGrandBleu , ah yes I mean a Glioma x

@namechangenumber2 oh, that's tough. It must have been hard. Thanks for answering ? How is he now? Have you done the genetic testing or have you just been told to stay vigilant for more signs (neurofibromas, litchi nodules, precocious puberty, high blood pressure, ...) ?

Sorry OP, another hijack [ flowers]

Lisch nodules, not litchi. Auto-correct