The jaw cysts are known as keratocysts because they are filled with keratin, which is the material making up the outer layer of skin, hair and nails.
Approximately 90% of individuals with Gorlin Syndrome develop multiple jaw cysts. Thye can occur as early as age 5 years, but the peak occurrence is in the teenage years. Jaw cysts usually present as painless swelling. Untreated they can lead major tooth disruption and fracture of the jaw.
Jaw cysts are thought to form from the rests of tissue close to the soft tissue from which teeth develop in early life. They are therefore to be found in those parts of the jaw which normally bear teeth. In Gorlin syndrome, the cysts are to be found in both jaws with equal frequency, a point of distinction from keratocysts found in non-Gorlin cysts, where the lower jaw predominates.
Treatment for the cysts is surgical removal. This is an operation which requires exposure of the lesion by making a hole in the jaw bone under anaesthetic, finding the lining of the cyst and removing this together with its cheese-like contents. This material is sent to a pathologist for examination under a microscope, to confirm the diagnosis.
Cysts which recur after such treatment, are removed as before but with a layer of bone at the margin of the cyst. This is to ablate any daughter cysts which my be forming in this region. Only in extreme cases is it advisable to resect a whole section of jaw bone (with a bone graft to replace the missing bone).
In the wisdom tooth area, a cyst may form around the crown of the unerupted tooth. The same change may occur around other buried teeth, especially around upper canine. Cysts which appear where a tooth has not developed, are also known as a primordial cyst.
There may be remarkably few symptoms until cysts reach a large size,. Presentation can be with swelling and/or pain of the jaw, pus discharging into the oral cavity or displaces, impacted or loose teeth.
Click here to view a jaw x-ray showing a keratocyst (top left jaw bone) and misplaced teeth in Gorlin Syndrome. The page also displays a photograph of multiple basal cell nevi across the cheek and the area surrounding the eyes.
Courtesy of Mr J Cornah, Maxillo Facial Consultant, Royal Preston Hospital (now retired)
Reviewed April 2013
Originally produced by Professor P. A. Farndon, Clinical Geneticist, Jim Costello (deceased) and Margaret Costello. We are reliant on a team of medical advisors for the clinical content of the website. We are grateful for their continuing support.
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