Dec 17, 2008

My work in BSS

I realize that I should tell potential readers how I got interested in BSS. I have always been interested in genetics and cancer. There are a lot of genetic syndromes that result in a predisposition to cancer. BSS is sort of unusual in that the mutated gene, CYLD, is involved in several very important biological pathways but BSS patients only have a problem in their skin, to our knowledge. I like studying BSS because the patients I have interacted with are wonderful people- and doing research that benefits people I can relate to only motivates me further.

Alright I am going to pipe down but I hope some of you out there find my site!

-Patrick
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6 comments:

  1. AnonymousJanuary 15, 2009 at 12:18 PM

    I was very excited to find some kind of blog or anything addressing BSS. It is pretty rare and most people have no idea what it is---including many doctors. I was diagnosed with it about 10 years ago in my early 20's. I have tried to find any kind of information out there for people like me but there just isn't much. I had pretty much quit trying. I saw your site today.

    I've had numerous surgeries to remove some of the larger growths. I have a pretty severe case of it. I am hoping at some point they will find something that could at least help slow new tumor growth.

    Is there currently any approved therapy or medicine that might help?

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  2. AnonymousJanuary 15, 2009 at 1:02 PM

    I would be interested in finding out more about any research or new findings for treating BSS. Please do post any info. you have. Are there any specific doctors who are knowledgeable about BSS or who have worked with other BSS patients? Is there any kind of trial or research BSS may participate in?

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  3. insgitne11January 15, 2009 at 1:49 PM

    You are right on- it is rare. We don't even know how rare. I will try to find a way to post full articles without ruining the blog format. Unfortunately, there is no approved therapy/medicine. There are some links to ultraviolet light exacerbating it, so avoiding sun may help. I must say there's no good evidence it will- we just don't have trials.

    Anonymous, where are you located? There are a few people in the US and Europe that I would call experts but they are scattered.

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  4. AnonymousJanuary 16, 2009 at 5:14 PM

    I am located in the the US in Alabama.

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    Replies
    1. UnknownAugust 3, 2017 at 5:39 PM

      I also was just diagnosed with bss any expert information would be greatly appreciated..

      Delete
  5. AnonymousMarch 28, 2017 at 4:12 AM

    Hallo; Ik ben nu 55jaar en al sinds mijn 12e bekend met de bultjes kangs de neus. De huisarts dacht toen aan acne. Waarvoor ik alcohol kreeg. Na de geboorte van mijn oudste zoon begin het op het hoofd. Na de 2e zoon werd het nog erger. In 1994 ben ik naar het academisch ziekenhuis in Maastricht gegaan. Daar hebben ze een bioptie gedaan. Het was BSS. Ze gebben van alles geprobeerd,azijnzuur, dermabrasie niks heeft geholpen.Toen werd het snijden om de zoveel tijd de diksten. Op een gegeven moment was het zover dat ik het tulbandsyndroom had. In 2010 ben ik dus gescalpeerd tot op de schedel. Er splitskin opgedaan. Huid van de benen afgehaald. (Dat was het pijnlijkste) en dat erover heen gedaan. Vier jaar later bij de oren weggehaald waren in oren gegroeid. Ik hoorde niks meer. En afgelopen week de hele wenkbrauwen verwijderd. En meerdere op het lichaam. Ik wul absoluut niemand bang maken. Maar dit is mij overkomen. Het is geestelijk heel erg zwaar. Sterkte voor iedereen die hier ook mee zit.

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