External auditory canal stenosis and partial atresia without associated anomalies

Area of Science:

• Otolaryngology
• Medical Genetics

Background:

• External ear canal stenosis or atresia, without associated anomalies like microtia, can present subtly.
• These conditions may remain undiagnosed in early childhood, impacting development and hearing.
• Familial cases, though rare, underscore the genetic component of isolated external ear canal malformations.

Purpose of the Study:

• To highlight diagnostic challenges in identifying isolated ear canal stenosis or atresia.
• To discuss potential pitfalls in the management of these conditions.
• To present a unique case of inherited isolated bilateral external canal atresia.

Main Methods:

• Review of ten clinical cases of unilateral or bilateral ear canal stenosis or atresia.
• Detailed examination of an inherited case involving a mother and daughter.
• Discussion of diagnostic and management strategies based on case reviews.

Main Results:

• Ten cases illustrate the difficulties in achieving early diagnosis of isolated ear canal stenosis/atresia.
• A rare instance of inherited isolated bilateral external canal atresia in a mother and daughter was documented.
• Diagnostic and management challenges were identified across the reviewed cases.

Conclusions:

• Early identification of ear canal stenosis/atresia is critical, even in the absence of other congenital anomalies.
• Awareness of potential diagnostic pitfalls is essential for timely intervention.
• Genetic factors may play a significant role in isolated external ear canal malformations.