What is congenital cholesteatoma (a type of congenital cyst consisting of keratin-filled epithelium)?

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From the Guidelines

Congenital cholesteatoma is a rare, benign growth that develops behind the eardrum in the middle ear cavity before birth and requires prompt surgical removal to prevent complications such as hearing loss, facial nerve damage, meningitis, or brain abscess. The condition occurs in patients with no history of ear disease or trauma and appears as a white pearl-like mass behind an intact eardrum, usually in the anterior-superior quadrant. Symptoms may include hearing loss, balance problems, facial weakness, or no symptoms at all in early stages. Diagnosis typically involves otoscopic examination, hearing tests, and imaging studies like CT scans. According to the available evidence, any patient with suspected cholesteatoma should be referred to an otolaryngologist for definitive management 1. Key points to consider in the management of congenital cholesteatoma include:

  • Early detection and treatment are crucial for preventing complications and preserving hearing function
  • The extent of surgery depends on the size and location of the cholesteatoma, ranging from simple excision to more extensive procedures
  • Regular follow-up is necessary after surgery to monitor for recurrence, which can happen if removal was incomplete
  • Topical antibiotic eardrops are not the primary treatment for congenital cholesteatoma, but may be used in cases of acute tympanostomy tube otorrhea 1. It is essential to prioritize prompt surgical removal and regular follow-up to ensure the best possible outcomes for patients with congenital cholesteatoma.

From the Research

Definition and Causes of Congenital Cholesteatoma

  • Congenital cholesteatoma is a rare entity that arises from epithelial cell rests in the middle ear, parts of temporal bone, or even intracranially 2.
  • The cause of congenital cholesteatoma remains controversial, but the epithelial rest theory is most commonly accepted 3.

Clinical Characteristics

  • Congenital cholesteatoma often presents with a myriad of clinical manifestations, including discharge, hearing loss, facial paralysis, and intracranial complications 4.
  • The commonest presentations in order of frequency are: discharge, hearing loss, facial paralysis, and intracranial complications 4.
  • Conductive hearing loss is the most common presenting symptom, and the disease often affects the anterior-superior and posterior-superior quadrants of the tympanic membrane 3.

Diagnosis and Staging

  • Diagnosis of congenital cholesteatoma is often delayed due to its insidious course and lack of specific symptoms 4.
  • A staging system has been proposed to assist with predicting postoperative outcomes, with stages ranging from I to IV 3.
  • The Potsic staging system is widely used, and most patients are diagnosed at stages III and IV 5, 6.

Treatment and Outcomes

  • Treatment of congenital cholesteatoma is surgical, with the goal of complete excision and rehabilitation of the ear's functional status 4, 3.
  • Surgical management may include canal wall up or canal wall down mastoidectomy, ossicular reconstruction, and facial nerve decompression 4, 5, 2.
  • Postoperative hearing results are associated with the status of the ossicular chain perioperatively, and recurrence rates are high, emphasizing the need for indefinite follow-up 4, 6.

Prognosis and Recurrence

  • The size of the lesion (≥4 mm) is significantly correlated with residual or recurrent disease 6.
  • Recurrence rates are high, ranging from 5.6% to 11.1% in stages III and IV, respectively 5, 6.
  • Early diagnosis and treatment are crucial to decrease the extent of the disease and reduce the risk of recidivism and complications 3.

References

Guideline

Guideline Directed Topic Overview

Dr.Oracle Medical Advisory Board & Editors, 2025

Research

Congenital cholesteatoma.

Current opinion in otolaryngology & head and neck surgery, 2004

Research

Congenital Cholesteatoma: The Silent Pathology.

ORL; journal for oto-rhino-laryngology and its related specialties, 2018

Research

Congenital cholesteatoma clinical and surgical management.

International journal of pediatric otorhinolaryngology, 2023

Research

Clinical Characteristics and Treatment Outcomes of Congenital Cholesteatoma.

The journal of international advanced otology, 2019

Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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