Abstract : ABSTRACT
Gorlin syndrome, also known as Gorlin-Goltz syndrome, basal cell nevus syndrome, or nevoid basal cell carcinoma syndrome, is an autosomal dominant familial cancer syndrome characterized by numerous basal cell carcinomas, skeletal, ophthalmic, and neurological abnormalities. Diagnosis is crucial through diagnostic tests, clinical signs, and radiological manifestations. The present paper highlights the importance of diagnostic criteria and histopathology in early and prompt diagnosis which will lead to proper treatment and genetic counseling of the patient. We are presenting a case of 28-year-old male patient came with the history of painful swelling over the left cheek and around the left eye. His histopathology report was keratocyst and genetic screening done confirmative of: Gorlin-Goltz syndrome. Garlin-Goltz syndrome is a multisystem disorder involving basal cell nevi, jaw keratocysts, and skeletal anomalies, with associated neurological, ophthalmic, endocrine, and genital manifestations, diagnosed using major and minor criteria. This paper emphasizes the importance of ENT and maxillofacial health professionals in the early diagnosis of nevoid basal cell carcinoma syndrome and in a preventive multidisciplinary approach to provide a better prognosis to the patient.
Keywords: Gorlin-Goltz syndrome, keratocyst, genetic screening.
Keyword : Gorlin-Goltz syndrome, keratocyst, genetic screening.
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Volume-11