Cafe au lait birthmarks/NF1- who does the diagnosis

[2boyzNosleep]

My DS (2yrs) has around 4-7 large (over 5mm) & 5 small cafe au lait marks (our GP thinks the 3 large ones are actually several grouped together).

Our GP did a Paediatrician referral, however I've received a Dermatology appointment from the hospital.

I'm going to clarify this tomorrow but just wanted to know other people's experience as to who does the initial diagnosis/investigation.

I do understand that the cafe au laits are skin/birthmarks so can somewhat understand why it may have gone down the dermatology route and realise that it may be different depending on which hospital trust you fall under.

Thank you

You’re definitely in the right place. Dermatology know more about them. I’d be more concerned if you were just seeing a paed.

I would join this birthmark support group if you have fb. Lots of parents with experience https://www.facebook.com/share/weG3RABbfQEhokDk/?mibextid=K35XfP

i would think it might be genetics team.

We were sent to generics at Manchester, there was a team of four there a paediatrician, generics consultant, psychologist and specialist nurse.

Told us straight away it wasn’t NF1, offered generics testing but said it wasn’t really needed, so we declined. They did confirm his dyspraxia which was helpful - it was about 12 years ago though.

Ours was GP referral
Pediatrician did blood work
Diagnosis from Genetic Team

Proper genetic testing took a long time. We waited four or five months for results to be officially confirmed. We'd already been diagnosed prior to official testing though as it was very obvious due to bone deformity. Are they definitely considering NF there are quite a few genetic conditions that CALs present in and some people have loads without NF.

13 years on we've never seen a dermatologist though.

There are several good support groups on Facebook, several have saved me over the years.

Thank you all for your replies- it seems that its a real mix of experiences of who you were seen by first.

I am aware that if they do suspect NF1 (or any other condition) that it would go down the genetics route. At the moment, I don't think there's any other obvious symptoms other than the marks and potentially being on the small side for his age.

He does have a couple of other things going on which I think is related to sleep apnea caused by huge tonsils, so we're currently waiting for ENT as well.

I would mention it to ENT too as they may refer to another department or run some tests if they think it is appropriate, especially if there is a chance that the ENT issues are in any way related.

So, on clarification of the appointment, it's with a Paediatrician within the dermatology team, which is reassuring.

How did the appointment go, OP?

Thanks for asking, the appointment is in 2 weeks time so will update then.

Update:

Seen by Paediatric dermatology consultant today.

She was unsure whether the 2 largest birthmarks (which could be taken as 2, or several grouped together) were true cafe au laits. They have the same colouring but ragged edges (pics attached)

This means that he has 3 'true' cafe au laits that are over 5mm and more uniform in appearance and a few smaller ones that are too small to take into consideration.

He also single freckle on his nipple, and 2 extremely faint ones near his groin, that are so faint you really wouldn't notice them if you weren't looking.

No other symptoms, no issues with development so no further investigations just yet.

We will have a follow-up appointment in a year's time.

thank you so much for updating.

Those are not NF1 CALs. If anything they could be used in textbooks to illustrate atypical (not NF1) CALs.
When there is true suspicion, they test, they don't say, " see you in a year".
I wouldn't worry about NF1.