Gorlin syndrome: A rare case report

Area of Science:

• Genetics
• Oncology
• Dermatology

Background:

• Gorlin syndrome is an autosomal dominant inherited disorder.
• It is caused by mutations in the PTCH tumor suppressor gene on chromosome 9q22.3-q31.
• Characterized by high penetrance and variable expressivity.

Observation:

• Aggressive keratocystic odontogenic tumors are often the initial clinical manifestation.
• These tumors exhibit a high recurrence rate due to diverse histopathological features.
• Other key features include basal cell carcinomas, intracranial calcifications, and skeletal anomalies.

Findings:

• Diagnosis requires specific criteria: two major and one minor, or one major and three minor criteria.
• The syndrome has an estimated incidence of 1 in 50,000-150,000.
• A notable male-to-female gender predilection of 3:1 is observed.

Implications:

• Understanding the genetic basis (PTCH mutations) is crucial for diagnosis and management.
• Early identification of keratocystic odontogenic tumors can aid in timely intervention.
• This case highlights the syndrome's presentation in a young female patient, contributing to clinical awareness.