Clinical practice guidelines for the management of basal cell carcinoma in Gorlin syndrome

Abstract

Background: Gorlin syndrome (GS) is a rare genetic disorder characterized by a predisposition to developing numerous basal cell carcinomas (BCCs) throughout life. The absence of specific clinical guidelines for managing BCCs in GS has resulted in fragmented care and inconsistent treatment approaches.

Objective: To develop evidence-based guidelines for managing BCCs in GS, addressing both clinical and psychosocial challenges.

Methods: A multidisciplinary panel employed a modified Grading of Recommendations Assessment, Development and Evaluation approach, integrating systematic reviews, expert surveys, patient interviews, and Delphi consensus rounds to formulate recommendations.

Results: The final guidelines include 47 recommendations spanning topical therapies, systemic treatments, surgical interventions, and multimodal strategies. Additional recommendations emphasize shared decision-making, comprehensive monitoring, and psychosocial support to address the chronic nature of BCCs in GS. Specific therapies, including hedgehog inhibitors and field treatments, are recommended to reduce surgical fatigue and enhance quality of life.

Limitations: Given the scarcity of GS-specific data, expert consensus informed several recommendations, highlighting the need for ongoing research to strengthen the evidence base.

Conclusion: These guidelines provide a structured framework for improving BCC management in GS, thereby enhancing clinical outcomes and patient quality of life. This process serves as a model for creating patient-centered guidelines in rare conditions with limited evidence.

Keywords: Gorlin syndrome; basal cell carcinoma; clinical guidelines; hedgehog pathway inhibitors; multidisciplinary care; patient-centered care; quality of life; shared decision-making.