Gorlin syndrome: case reports with extremely large odontogenic keratocysts

Background and objectives: Gorlin syndrome is an autosomal dominant, inherited cancer disease with a rare incidence. Diagnostic features are frequently missing in young patients, making the recognition difficult. The presence of two major and one minor criteria or one major and three minor criteria are necessary to establish a diagnosis. The odontogenic keratocyst is frequently the presenting manifestation of this syndrome. This condition may be associated with aggressive basal cell carcinomas and malignant neoplasias in 10% of the patients.

Methods: Six patients were diagnosed with Gorlin syndrome in our department from 2002 to 2013. The orthopantomogram of all patients revealed large bilateral radiolucent lesions located in one or both jaws. Family screening and genetic counselling revealed other diagnostic criteria for Gorlin syndrome. All the cysts were removed and in five patients these were defined histologically as odontogenic keratocysts and in one of them as a radicular cyst. In two cases mandibular cystic cavities were bone grafted from the iliac crest.

Results: Recurrence of the keratocysts has been observed in five of them for the last 10 years. In all these cases reoperations were performed. The patients are currently symptomless and are in regular follow-up.

Conclusions: Early diagnosis of Gorlin syndrome is important due to susceptibility of affected people to keratocysts and multiple neoplasms. This presentation emphasizes the important role of oral and maxillofacial health professionals in the early diagnosis of Gorlin syndrome and in a preventive multidisciplinary approach to provide a better prognosis to the patient.

Key words: Gorlin syndrome; odontogenic keratocyst; neoplasm; case report

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Jan 21, 2018 | Posted by in Oral and Maxillofacial Surgery | Comments Off on Gorlin syndrome: case reports with extremely large odontogenic keratocysts
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