Written by Jayde Galvin
Only small hints of blue sky escape through the clouds as Peter Karalis your average, young and fresh looking 19 year old male, sits in his backyard eating an afternoon snack.
He leans back on his chair to call out to his Mum and some sun escaping through the clouds shines on his naked face, exposing otherwise invisible, tiny and risen scars.
Mr. Karalis suffers Gorlin-Goltz Syndrome, a rare autosomal dominant disorder that is apparent in one in every 60, 000 individuals.
The three major symptoms are two or more basal cell carcinomas (a form of skin cancer) under the age of 20, palmer pits and keratocysts in the jaw.
Mr. Karalis was first diagnosed with the syndrome in 2007, after he developed the latter two symptoms.
“I was 15 years old when I showed the first symptom of the syndrome. I had a sore jaw.
“I thought my wisdom teeth were coming through so I had an x-ray.
“The x-ray showed that my wisdom teeth were coming through, but that I also had keratocysts that had developed on both the right and left side of my jaw.
“They were the biggest the oral maxillofacial surgeon had ever seen,” he said.
Keratocysts are removed surgically under a general anaesthetic.
“The keratocysts were removed in mid-2007 and my oral maxillofacial surgeon mentioned they were often associated with this syndrome.
“He took one look at my hands and noticed little holes, like pin pricks in my palms and he looked at me and said 'you have Gorlin-Goltz syndrome'.
“It’s funny how you don’t notice things until you’re aware of them.
“I had never noticed the pits in my hands, but now I watch more and more develop over time.”
Early detection helps
In cases like Mr. Karalis where detection is early, the surgery is minor and causes no external or internal damage.
“It was my first ever operation so to me it was a big deal at the time, but the surgery is easy and the recovery process is just a few weeks of a swollen face and these really annoying dissolvable stitches in your gums that take a long time to dissolve.”
Mr. Karalis was told that 50 per cent of patients with Gorlin-Goltz syndrome have a high susceptibility to skin cancer and often develop them at young ages.
After seeing a dermatologist who looked at his unscathed, clear skin and sent him away with the all clear, Mr. Karalis assumed he apart of the other 50 per cent category.
“When you see the pictures on the internet, basal cell carcinomas are so red and ugly. You think 'well I would definitely know if I had one of them'.
“I suppose being an adolescent as well made it hard, as we all have lumps and bumps at that age that come and go as they please.”
Second opinion
It was in March 2010 when Mr. Karalis decided to get a second opinion from another dermatologist.
“I had these almost pearly white lumps on my face, about 20 of them. They weren’t physically noticeable but I could feel them and if I looked really close in the mirror I could see them.
“I would pick at them but they would go away and then come back, and I guess I was a bit paranoid so I went and saw another dermatologist.”
The dermatologist took four biopsies off Mr. Karalis’s face and two from his neck after hearing that he had been diagnosed with Gorlin-Goltz syndrome.
“She kind of took samples of spots that were different, so that we could get the results and then determine which types of spots were what.”
Five out of six of the samples taken from Mr. Karalis’s face came back as skin cancer.
“The word cancer makes it sound so serious, but they are basal cell carcinomas, not life threatening generally, but I suppose cancer is cancer and it has to be removed as it does have the unlikely ability to become aggressive,” explains Mr. Karalis.
Living with Gorlin-Goltz syndrome
According to the British Medical Journal, basal cell carcinomas are the most common malignancy in white people and mortality is low as the cancer rarely metastasises.
Early detection for these cancers is preferred to simplify the management and to avoid disfiguring scars, as surgery is currently the most preferred treatment as it has the smallest re-occurrence rate.
In June, 2010, Mr. Karalis went under a general anaesthetic and had a plastic surgeon remove lesions from his left arm, neck and face, 18 in total. Fifteen of the 18 lesions removed were cancerous.
Having been diagnosed with so many at a young age Mr. Karalis has been told that the rate will only grow as he gets older, meaning that he could have hundreds removed in his lifetime.
“I know that if this is the worst thing that ever happens to me then I suppose that’s not so bad.
“It’s just with a problem like this you wear the repercussions on your face every day and it makes it hard.
“Every time I feel the sun beat down on me, my mind screams skin cancer and at first the reality of it was hard to accept.”
The longest suture line on Mr. Karalis’s face is two centimetres long.
“The scars obviously haven’t fully matured yet and at the moment are going through a bit of an angry stage, but in due time I know they will be unnoticeable.
“I must admit some days I do find the whole situation really depressing and I do feel really sorry for myself, but you learn pretty quickly that you can’t live that way.”
Sun-smart pays off
Mr. Karalis is now very sun-smart, wearing sunscreen and hats everyday no matter the weather, and covering his shoulders and arms with long sleeve t-shirts when he feels necessary.
“When I’m down in the dumps, I find the best method is to think about people that are worse off.
"Everything can be worse than what it is, so I guess you just have to focus on what’s good and not on what’s bad.”
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