Gorlin-Goltz Syndrome - Case Report of a Rare Phakomatoses.

Introduction: Gorlin-Goltz syndrome also known as Nevoid Basal Cell Carcinoma Syndrome is a rare phakomatoses inherited as an autosomal dominant disorder characterized by mutations of PTCH-1 gene along with microdeletion of chromosome 9q. It is manifested by multiple tumours and abnormalities most importantly featured with multiple basal cell carcinoma, Odontogenic Keratocyst (OKC) and other skeletal disorders. Case Report: A 11- year-old girl having facial asymmetry and pain on the right side of the jaw reported to the department. Radiographic examination revealed multiple radiolucencies in the mandible. The biopsy and histopathological examination confirmed the presence of multiple OKC. Further investigations led to the case fulfilling 3 major criteria of multiple OKC, falx and tentorium cerebelli calcifications, palmar and plantar pits which established the diagnosis of Gorlin-Goltz syndrome. Conclusion: Being a condition requiring a multidisciplinary approach, early diagnosis and appropriate prophylactic measures along with proper treatment is essential for a better prognosis. [ABSTRACT FROM AUTHOR]