Preauricular Sinus: A Tale of Forgetful Rediscovery

Area of Science:

• Medical Genetics
• Developmental Biology
• Otorhinolaryngology

Background:

• The preauricular sinus (PAuS) is a congenital external ear malformation.
• It presents as a foramen, opening, or invagination, typically on the auricular helix.
• PAuS can occur unilaterally or bilaterally, sometimes with multiple fistulas.

Purpose of the Study:

• To review the historical and clinical understanding of the preauricular sinus.
• To highlight its recognition in art predating clinical descriptions.
• To emphasize its dual classification as an individual malformation and a syndromic feature.

Main Methods:

• Literature review of historical texts and artworks.
• Analysis of clinical descriptions and genetic syndrome associations.
• Synthesis of historical and contemporary medical perspectives on PAuS.

Main Results:

• Evidence suggests PAuS was known and depicted in art (e.g., Hieronymus Bosch) before formal clinical description.
• First medical descriptions are attributed to Heusinger and Virchow.
• PAuS is recognized as a congenital anomaly and a component of various genetic syndromes.

Conclusions:

• The preauricular sinus has a long history of observation, predating its formal medical documentation.
• Understanding PAuS requires considering its presentation as an isolated anomaly and its syndromic associations.
• Continued research is essential for comprehensive management and genetic counseling related to PAuS.