Journal of Advances in Medicine and Medical Research

Gorlin–Goltz syndrome is an autosomal dominant disorder, with mutations in the patched tumor suppressor gene (PTCH1) leading to a wide range of developmental anomalies and neoplasms of cutaneous, dental, osseous, ophthalmic and neurological origin. It commonly presents as multiple keratocystic odontogenic tumors (KCOTs) of the jaws, basal cell carcinomas (BCC) of skin, calcifications of the falx cerebri, ocular hypertelorisms, palmar-plantar pits, bridging of sella turcica and macrocephaly. In addition to these major criteria, more than 100 minor criteria have been described. We hereby, present one such case of Gorlin-Goltz syndrome reported to our dental clinic in Jabalpur, India. A 20 year old male patient presented with complaint of foul fluid discharge from a peri-apical sinus of an over retained, mobile Deciduous Maxillary left canine tooth. Patient’s general physical examination revealed macrocephaly, wide nasal bridge, ocular hypertelorism, numerous naevi and a sebaceous cyst. Panoramic and CT examinations revealed presence of multiple keratocystic odontogenic tumors (KCOT) in both the jaws, bridging of sella turcica, patchy calcifications of falx cerebri and tentorium cerebelli.

Though, multi-disciplinary examination revealed no evidence of neoplasm, multi-disciplinary treatment along with genetic counseling was provided to the patient. Lifelong surveillance was offered to prevent future morbidity and mortality associated with this syndrome. This case, illustrates the importance of thorough dental and physical examination including examination of draining oral sinuses, missing teeth, deciduous teeth, macrocephaly and frontal bossing. Additionally, detailed investigations in patients with lesions suggestive of aberrant phenotypic characteristics are mandatory.