Overview
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, odontogenic keratocysts, skeletal anomalies, and other congenital malformations 12.Diagnosis
Key Diagnostic Criteria: Basal cell carcinomas, odontogenic keratocysts, skeletal anomalies (e.g., scoliosis, bifid ribs), palmar/plantar pits, facial dysmorphism, cerebral falx calcification 2.
Recommended Tests: Genetic testing for Patched (PTCH) gene mutations 2.
Additional Findings: Vascular anomalies, chylothorax, and neurological abnormalities like unilateral arhinencephaly may be present 13.Management
First-Line Treatments: Regular dermatologic surveillance for early detection and management of basal cell carcinomas 1.
Surgical Interventions: For odontogenic keratocysts and other symptomatic lesions 2.
Monitoring: Frequent dental evaluations due to increased risk of odontogenic keratocysts 2.
Pulmonary Care: Close monitoring for pulmonary issues, including vascular anomalies and potential metastases 1.Special Populations
Prenatal Considerations: Prenatal diagnosis possible, with chylothorax reported as a novel feature 2.
Pediatrics: Persistent respiratory issues like pneumonia may require specialized pulmonology care 1.
Neurological Monitoring: Regular neurological assessments to detect cerebral anomalies such as unilateral arhinencephaly 3.Key Recommendations
Conduct genetic testing for Patched gene mutations in patients with clinical features suggestive of Gorlin syndrome (Evidence: Strong 2).
Implement regular dermatologic and dental screenings to manage basal cell carcinomas and odontogenic keratocysts (Evidence: Moderate 2).
Monitor for and manage potential vascular anomalies and pulmonary complications, including chylothorax in prenatal cases (Evidence: Moderate 12).References
1 Kopp BT, Rosen KL, O'Donovan JC, Sheikh S. Cardiac fibroma, anomalous pulmonary venous course, and persistent pneumonia in a patient with Gorlin syndrome. Pediatric pulmonology 2014. link
2 Geneviève D, Walter E, Gorry P, Jacquemont ML, Dupic L, Layet V et al.. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenatal diagnosis 2005. link
3 Aleksic S, Budzilovich G, Reuben R, Laguna J, Finegold M, McCarthy J et al.. Unilateral arhinencephaly in goldenhar-gorlin syndrome. Developmental medicine and child neurology 1975. link