hi my 10 year old daughter has been tested for the ptch gene and it was found that she has gorlins syndrome. my wife and myself were tested for the gene and it was negative, gorlins syndrome started in my daughter.all her life she has had bcc's to an extent now where her shoulders are covered, also a few on her face and alot over the rest of her body she has had quite alot removed but they just keep coming. she has had a very large jaw cist removed and doctors are keeping there eye on a few more which she has. we only found out her diagnosis this year, it has taken ten years to get where we are today. what else is going to happen to my baby girl, its frightening.
they say that the bccs and cists start when the child is in puberty, well my daughter hasnt reached puberty yet and my wife and i are worried that its going to get worse for her. we still thank our lucky stars because she is so beautiful and she didnt get the brain tumours.
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pablo220
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hi i was diagnosed with gorlin syndrome last yr, but they think i have prob had it since i was a teenager as i was always getting cysts in my sinisus, (i am 39 now) when i was diagnosed i was also told i had skin cancer and that was all connected with the gorlins, as soon as i get a couple removed another couple come thru i sometimes feel like im fighting a losing battle aswell and think wen is it ever going to end. i know they r doing trials for a cure for gorlin syndrome and they will know by the end of this year if they have worked, so here,s hoping they have. dont know if this will help but i hope it does xxx
My heart goes out to you. I know how overwhelming this all can be. My son is 12, almost 13. He has 'water-on-the-brain' & had 3 surgeries when he was only a few months old. As far as we knew this was the worst of it. Then about 5 yrs ago we wanted to have several skin tags remoed around his collar bone. That was the 1st w/the bcc's. From that point we went to the Mayo Clinic in Rochester MN & he had the gene testing done where we learned he has GS. He has had probably about 200 spots removed, most just skin tags but both the basil cell nevi & carsanomas. They have MANY different ways to remove them. We have tried 'aldera' cream (I think thats how they spell it) where you simply but the cream on the spots & hope the shrink & diaspear. Another treatment they did when they put him to sleep for another 'procedure' not related to GS, I call the 'blue light treatment' where they use a special light to 'burn' the bcc. Most have been 'frozen' off with very little discomfort. The biggest adjustment is using sunblock EVERYDAY rain or shine. (The routine has taken some time but now its done just like brushing teeth w/no thought) There are several things you can do when kids are outside on top of sunblock, hats, sunglasses. There is a 'dye' you can add to your laundry that 'adds' an spf to your clothes. We are big outdoors people in Northern MN w/lakes & such & we get 'rash guards' that also have an spf. These are like a swim shirt that surfers & boogie boards wear. You can get them at Target but I have done some research & if you order them or buy them from a 'surf store' the bigger brands are MUCH better quality. They are not cheap but they LAST, order a couple sizes up as they are skin tight but my son didnt like them real tight so we ordered big & they can last a couple summers.
we have just in the last couple months started with the jaw cysts. He had 2 removed in Aug, one was quite large & not all of it could be removed. We were back last week & it is shrinking. We are scheduled to go back in Dec & possibly another surgery then to remove more of this cyst.
I know this is a LOT to process. I swear by our dr's, they have been amazing! I've always tried to tie dr appts w/something 'fun'. Whenever he has a surgery, the night before we go to Chuckie Cheese for pizza & games. Sometimes its a movie or a trip to Mall of America. I've just always wanted to make sure its just not another dr's appt that we dread but know he 'gets something out of it'. There was a time I'd give him a dollar for every skin tag removed & he was all for LOTS to be taken off so he could go to Best Buy for a movie. I call them 'incentives' NOT 'bribes' I hope I didn't over do it, I just about wrote a book! I will be keeping you all in my prayers!
Have noted the posts above and read with interest. It is important to realize that all individuals with the condition do not present with the same symptoms and it can be extremely variable amongst individuals. The most important aspects no matter what the symptoms is the need for regular hospital check ups and early treatment for either jaw cysts (keratocysts) and basal cell carcinomas. Don't be 'fobbed off' with lengthy delays for appointments or treatment.
Take care in the sun. A good quality sun screen with high SPF used on a daily basis is advisable. It's worth noting that people with GS in the UK can get a prescription exemption card so no need to buy the sun screen - just ask your GP/Doctor for details.
There are also many high street retailers and on-line shopping stores who stock sun protective clothing for children and adults. A good buy and protection against the harmful rays of the sun.
I realise that diagnosis can be daunting, particulary given all the symtoms associated with the condition but Fiona above is right - with diagnosis you know what to look out for and can ensure that regular check ups are scheduled should there be any complications with any aspect of GS.
My daughter was just diagnosed with jaw cysts at a routine dental check up. One cyst is so large that not much is left of the bone in her left jaw. They will be doing a bone graft and she will lose 5 good teeth. She is 12 yars old and we are so overwhelmed with all this. She was born with a skin tag, which had to get removed last year. We didn't know that it was part of the GS. Now my husband and I are getting tested. She is such a cute girl and I feel so bad for her. Someone told us make sure she does not get too much radiation (like x-rays,ct scans, mri's) We noticed that whenever spring came around she would get a sun rash. It would usually go away after a week or two. So far we have not noticed anything strange on her skin. Within the last year, I toticed her left shoulder drooping down a little. We thought she was not standing straight, but I think it's her skeletal system. She also was born with a larger head and flat feet. Wishing all of the best--
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I hope I didn't over do it, I just about wrote a book! I will be keeping you all in my prayers!
