Talk to me about Tuberous Sclerosis.

[mummyplum]

I have been putting together some of the jigsaw pieces regarding my DD.

If you have read some of my posts then you will know a little background already but: DD is 4, has ASD tendencies (possible AS), seizures: drop attacks, partials and absences, chronic bowel and lung problems the list goes on. The Dr does not know what it is - we are due to see a comm. paed end of June.

Anyway, she has had a facial rash (acne like spots on L cheek) since Jan. She has eczema so I asked the GP for some steroid cream and I have been applying it religously. The cream does not work. It did work on a flare up - so puzzled as to why the cream does not work on this patch. I found some information on angiofibroma and it sounds like my DD's rash - typically appears between 3 & 5. With the combination of this, a few small brown patches on DD's skin and a few white patches which I thought were pox scars, I'm beginning to wonder if Tuberous Sclerosis this is the cause of it all? Unless I am jumping the gun a little, adding 1 +1 and getting 5?!

The other niggling issue is we have a prevalent family history of polycystic kidney disease, all on maternal side and i know this is strongly genetically linked to TS.

It's worth raising your concerns with the paediatrician, as it seems that she has some of the symptoms of Tuberous Sclerosis, but impossible to be sure without medical opinion. I know a little girl with this condition, and the rash on her face is very distinctive. Has she ever had a CT or MRI scan?
It must be hard to wait to be seen, and tempting to read all you can on the internet, but remember not all children are severely effected.

Hmm I may pop a picture of it on here if possible (not sure how yet). She has always had a red patch from under eye to cheek, it is this area that is spotty - acne like at its worst and just under that there is a v small light brown patch on her jawline. Sh has another light brown patch on her belly but they are so tiny I have never paid attention. I read some info, but I am not googling!! I understand there has to be at least one major feature and two minor, or two major features.

I don't know much about TS - but I do know it often goes undiagnosed.

So def worth getting a referral and seeing if it could be it......

Found this research paper
Facial Angiofibromas Associated with Tuberous Sclerosis

I don't think it's infaillable. A girl in DD1's class has TS and no rash. DD1 has brown patches and extensive white patches and does not have TS (though she has another brain disorder and the two are probably related in her case) - apparently the pattern of the white patches in TS is fairly distinctive.

Definitely worth getting someone to have a look at it though; possibly the geneticist?

Ta very much for the info dolfrog.

It does seem to fit, the MRI is the only thing that has never been done. The rash could well be a coincidence I guess.

For TS they test the white patches with a UV light which is fairly easy and straightforward. The kidneys can be tested for cysts using ultrasound but the family history is only relevant if one of the parents has TS.
Am not aware that TS causes bowel problems and lung problems are possible but very rare.
I am not an expert but do have experience of this condition as dd and me have both had these tests. Please pm me if you would like more info.

But the uv test only shows if you have "genuine" white patches & clarifies how many and what shape. Not whether they are caused by TS. DD1's patches show up under UV but are caused by something else* - afaik, because skin and neuro tissue develop from the same prototype bits of the embryo, there are a few conditions which can affect both. What shape are the white patches, out of interest? DD1's is a fairly diffuse messy ink-blot style blob, which I think is why it was Not TS iyswim.

*Per the geneticist "something mosaic". She offered to cut bits of skin off DD1 to investigate. I asked whether there was any prospect this would improve our understanding of DD1's condition, predict outcomes or help her in any way. Geneticist said no, she was just curious. So I said no, too!

The thing to push for I think, is an MRI. Depending on availability in your area of course - there's a good 9 months' waiting list for a non-emergency paed MRI in our area. She'd probably have to be sedated - DD1 has had 2 MRIs under GA.

r3 - She has a 7cm white patch near her groin, this one is fairly irregular. The other one is smaller but like the leaf shape that TS sufferers have. She is fair with pale skin, so they are difficult to see - can see some more, but I'm not sure. The brown patches, they are light brown, the same in size & shape (less than a cm) one on face, 2 on abdomen, one on leg. Another thing I have always wondered about is a some of her hair is silver - just a few strands, but I have read today that this is also a possible marker in TS.
The facial rash started as some tiny red spots (which she immediately picked at and I assumed was eczema) and then grew in size leaving acne type marks on her lovely little face, the spots are flatter but if she is hot they seem to be more noticable (:() However, in looking at some older pictures of DD the same area of her face has always been slightly redder, stretching from the inner corner of her eye to cheek.