Cholesteatoma represents a non-neoplastic yet aggressively expanding lesion of keratinizing squamous epithelium within the middle ear or mastoid cavity.

Despite being histologically benign, its locally destructive behavior poses a serious threat to auditory function and adjacent neurovascular structures.

A 2024 review in Otolaryngology–Head and Neck Surgery highlighted that delayed diagnosis continues to be a global issue, especially in pediatric populations, due to its subtle and nonspecific clinical onset.

Etiopathogenesis: How Does It Begin?

There are two major categories: congenital and acquired. Congenital cholesteatoma arises from embryonic epithelial remnants and is typically found in the anterosuperior quadrant of the middle ear without prior infection. Acquired cholesteatoma is more common and is often linked to chronic otitis media with tympanic membrane retraction, particularly involving the pars flaccida. According to Dr. Jacqueline Allen, an otologist at the University of Auckland, "Negative middle ear pressure and poor Eustachian tube function allow the tympanic membrane to invaginate, creating a retraction pocket that traps keratin debris—initiating the cholesteatoma cycle."

Clinical Presentation: A Whisper Before the Roar

Chronic, foul-smelling otorrhea unresponsive to antibiotics is often the earliest clue. Progressive conductive hearing loss, a sense of fullness, and rarely, vertigo or facial nerve dysfunction may follow. Children may present subtly, with only hearing issues flagged during school screenings. Otoscopic examination may reveal a pearly white mass or retraction pocket with granulation tissue. However, not all lesions are visible externally, underscoring the importance of high clinical suspicion and adjunct imaging.

Diagnostic Approach: Beyond the Otoscope

High-resolution computed tomography (HRCT) of the temporal bones is the imaging modality of choice. It delineates the extent of bony erosion—especially scutum, ossicles, lateral semicircular canal, and tegmen tympani. MRI with diffusion-weighted imaging (DWI) is increasingly employed for identifying residual or recurrent disease postoperatively, offering a radiation-free and non-invasive method with high specificity.

Recent innovations in non-echo planar DWI (non-EPI DWI), as published in Radiology (2023), provide better resolution of small lesions and minimize artifacts, allowing for earlier and more confident detection.

Histopathology: The Microscopic Culprit

Microscopically, cholesteatoma comprises a central core of desquamated keratin surrounded by stratified squamous epithelium. Inflammatory mediators, particularly matrix metalloproteinases (MMP-2 and MMP-9), are implicated in local tissue destruction, especially bony resorption. A 2024 study in Acta Oto-Laryngologica confirmed elevated MMP expression correlates with greater ossicular damage and mastoid invasion.

Surgical Management: No Room for Delay

Surgery remains the definitive treatment. The main goals are eradication of disease, restoration of the middle ear space, and reconstruction of the ossicular chain when feasible. The approach—canal wall up (CWU) versus canal wall down (CWD)—depends on disease extent, patient age, anatomy, and risk of recurrence.

A modified Bondy technique or endoscopic transcanal cholesteatoma resection may be employed in select cases with limited disease. According to Dr. John Dornhoffer, a leading figure in cholesteatoma surgery, "Endoscopic ear surgery has significantly expanded our ability to manage cholesteatoma in hidden recesses while preserving normal anatomy."

Postoperative Follow-up: Surveillance is Essential

Even after complete resection, recurrence remains a concern. Rates vary from 10% to 40%, especially in CWU procedures. Serial DWI-MRI imaging is often recommended at 6- to 12-month intervals postoperatively. Reconstructive hearing outcomes also require long-term evaluation and, if necessary, secondary ossiculoplasty.

Complications: The Cost of Delay

Untreated or recurrent cholesteatoma may lead to:

- Ossicular chain erosion with permanent conductive hearing loss

- Labyrinthine fistula causing vertigo

- Facial nerve paralysis due to dehiscence or compression

- Intracranial complications such as meningitis, sigmoid sinus thrombosis, or brain abscess

Cholesteatoma in the middle ear is more than a misnomer—it's a silent, expanding threat. Its benign histology belies its malignant behavior. Otolaryngologists, pediatricians, and primary care physicians must maintain a high index of suspicion, especially in children with recurrent otitis media or persistent otorrhea. With advancements in imaging, surgical technique, and biomolecular understanding, timely intervention can preserve not only hearing but quality of life.