Newly diagnosed and confused

[Pineapple2001]

Hello, this is my first post here.

I have just had the results from a biopsy and it seems I have urticaria pigmentosa as I suspected. My daughter has had it since a baby and I recognised the symptoms. My GP wasn't interested so I eventually saw a dermatologist privately and got referred back into the NHS.

My marks appeared really quite suddenly last year and seem to only flare up with cold and friction (both together triggers the worst reaction), I wondered whether others had had that experience. I'm struggling to get my head around what it means for me - I have no idea when I will next get to see someone (my daughter hasn't been seen for two years now). I guess I am just looking for some people's experiences of UP.

I also wondered whether anyone had experience with children. My daughter's consultant said she should have improved by age 5 but the marks are still there, I have read elsewhere that they wouldn't be expected to resolve until puberty. Fortunately, she doesn't seem to have other symptoms at the moment but I'm worried that the fact that I have it means that it will not improve for her.

Apologies for the rambling post - I'm just feeling a bit confused and worried

Thanks.

[Jess-UKMasto Administrator]

Hi Pineapple, and welcome. I'm glad you were able to take that first step and get yourself diagnosed. The situation may be a bit different for you and your daughter because adult-onset and paediatric onset can behave differently. The data we have from watching larger groups of children with UP shows that about 60% will have resolution by puberty. While some children do have their spots begin to fade at younger ages, this is not true for all. Adults with cutaneous (skin) mastocytosis need to be assessed to see if they have systemic mastocytosis, which affects most adults. In cutaneous (skin) mastocytosis there are too many mast cells, but only in the skin. In adults there are often too many mast cells also in other parts of the body (GI tract and bone marrow are most common). It would be good to try to get a referral to a doctor on the NHS to follow on with your care. I can email you an article to share with your GP about adult mastocytosis that should light a little fire under them to get you the consultant you should have. The dermatologist may already have made an assessment that you don't seem to have systemic (spleen and liver are normal sized when poked at, blood counts are normal and serum tryptase is less than 20 ng/ml), but you should have a check at least once a year to affirm these findings and that can be done on the NHS. My email is [e-mail] if you'd like to have a copy of the article that could help your GP. Best wishes, Jess

[Pineapple2001 in reply to Jess-UKMasto]

Thanks so much for your reply Jess. I am in the NHS now but don't yet have a dermatology appointment following the biopsy result.

I am fortunate to not be experiencing any other symptoms yet - my main one is flare ups of the marks when I run in the cold weather (in this heat they're fine!). I am concerned that I should be carrying an adrenaline auto-injector having done a bit of reading. It's a condition that seems to range across a whole spectrum of outcomes so I'm just struggling to get a handle on what the future might hold.

I am also still surprised by how suddenly the marks appeared and wondered whether that has been the case for others with adult-onset.

I'm really glad to be part of this community though - no one has any idea about it! It took years to get my daughter diagnosed. Doctors would just say "I don't know what the marks are but I'm sure its fine"!

Thanks again for the response.

[Sotonowl in reply to Pineapple2001]

I have trouble understanding how the Doctors just seem so disinterested. I hope both you and your daughter get the treatment you need.

[Jess-UKMasto Administrator in reply to Sotonowl]

Even with dermatologists sometimes it can be a struggle to communicate that the skin is not the whole problem. If they think it's only the skin they don't see that it needs attention if the spots are not blistering (which is rare in adults). They don't realise the spots are the tip of the iceberg : (.