Multiple Keratoacanthomas Associated with Genetic Syndromes: Narrative Review and Proposal of a Diagnostic Algorithm

Area of Science:

• Dermatology
• Oncology
• Genetics

Background:

• Keratoacanthoma (KA) is a common, rapidly growing epithelial tumor with variable presentation.
• While often solitary, multiple KAs can indicate exposure to carcinogens, medications, or genetic syndromes.
• Multiple KAs may serve as an early warning sign for associated conditions.

Purpose of the Study:

• To review current knowledge on multiple KAs, focusing on those linked to genetic syndromes.
• To propose a diagnostic algorithm for clinicians managing rare cases of multiple KAs.
• To identify knowledge gaps and suggest future research directions.

Main Methods:

• Comprehensive literature review of existing studies on multiple KAs.
• Focus on case reports and series detailing genetic associations.
• Development of a clinical diagnostic algorithm.

Main Results:

• Multiple KAs, though less common than solitary lesions, are significant indicators of potential underlying causes.
• Genetic syndromes are an important, though often overlooked, association with multiple KAs.
• A proposed diagnostic algorithm can assist clinicians in the systematic evaluation of patients with multiple KAs.

Conclusions:

• Early recognition and diagnosis of multiple KAs are crucial for identifying underlying genetic predispositions.
• The proposed algorithm aims to standardize the diagnostic process for these rare presentations.
• Further research is needed to elucidate the pathogenic mechanisms and improve management strategies.