Unknown medical conditions...how do I find the answer?

Rhiannon - posted on 09/08/2009 ( 1 mom has responded )

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I am a little at a loss of how best to describe my son's condition, so I will try and give all the information I can and see what everyone thinks.



When he was born he had a red birth mark on his back about the size of a thumb print. Over the months following, the birthmark became larger. The growth was not as red as the original mark, but when my son is very hot, it turns darker red and purple. Where these marks are, the skin is different (there is no better explanation than that). It looks that either the skin is thinner, or there is no fat deposited under the skin.



When he was around 6 months old, the marks had spread to be the size of a small handprint, covering his lower left back, part of his spin and beginning to spread round his side. We took him to the doctor, who then referred us to a paediatrician. Both were quite perplexed, having never really seen anything like this. It was decided to do a punch biopsy at the Base Hospital. This was done when he was about 10 months old. At this time, we also had a full blood work done, to test liver/kidney function, blood count, and also for the two problems they were looking at at that stage. These were a form of lupus and something called scleraderma.



The blood work was all fine, nothing abnormal at all. We also received perfectly normal biopsy results, but despite this the marks continued spreading. So a second more invasive biopsy was done about 2 months later under full anaesthesia and a large portion of skin and tissue was removed from next to his spine.



Thes result of this biopsy has been even more perplexing. The skin where these Marks are is thinner, when compared to the healthy skin next to it. But that is the only abnormality. The skin itself is healthy with no indication of why it is thinner, it just is. The marks are still continuing to spread, and so next month, we are going to fly to our capital city to see the expert in dermatology at the Royal Children's Hospital. He has seen it over video link up from our local Base Hospital, but has decided that he needs to see it in person.



So, the marks are continuing to spread, and become larger (now more than half his back from shoulders to bottom is covered) and we still have no answer. The skin is normal, aside from looking thinner, and he suffers no ill effects. he is above average in height, weight and all that. You can touch the marks without him noticing or seeming to be in pain from them. The skin is soft though you can see veins through it, after all it is thinner skin. And all any doctors can tell us is that they have never seen anything like it before.



The best description I can give of what it looks like is 3rd degree burn scares without the hardness or shininess. We have actually been asked by a doctor at one point if we burnt him. After reading this post, if anyone has any experience with this sort of thing, can they let me know. I am sure, as they have no idea what it is at all, that any research I can do will help. If this describes something your own child or child you know (or an adult you know, for that matter) has, please write back with information of diagnosis, tests performed, treatment given etc.



If the doctors can't help me, I am determined to find out on my own!

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Rhiannon - posted on 09/08/2009

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Also, if anyone has any suggestions for other ways to try and find the answer to all this, please feel free to suggest them. Thanks, I really hope somone can help!

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