Gorlin-goltz syndrome.
Dn Mehta1, N Raval1, H Patadiya1
1Department of Oral Medicine and Radiology, Karnavati School of Dentistry, Gandhinagar, Gujarat, India.
Gorlin-Goltz syndrome (GGS), a rare genetic disorder, presents with basal cell carcinomas and other unique features. Early dental diagnosis is crucial for managing this condition, especially in regions like India where cases are seldom reported.
Area of Science:
- Genetics and rare diseases
- Dermatology and oral pathology
Background:
- Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant disorder.
- Caused by mutations in the patched gene on chromosome 9q, GGS exhibits high penetrance and variable expressivity.
Observation:
- Key characteristics include basal cell carcinomas, odontogenic keratocysts, palmar/plantar pits, and falx cerebri calcifications.
- Few GGS cases have been documented in India, highlighting a potential diagnostic gap.
Findings:
- This report details a rare case of GGS diagnosed in a rural dental college in Gujarat, India.
- The patient presented with the characteristic clinical features of Gorlin-Goltz syndrome.
Implications:
- Highlights the critical role of dentists in the early diagnosis and management of GGS.
- Emphasizes the need for increased awareness and genetic counseling for GGS in India.
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