Cholesteatoma: Symptoms, Types, Causes and Treatment

Cholesteatoma is a complex condition of the middle ear that has challenged clinicians for centuries. Despite its benign histology, it can be highly destructive, leading to hearing loss and serious complications if left untreated. This article provides a comprehensive overview of cholesteatoma, covering its symptoms, types, causes, and modern management approaches. Drawing from the latest research, we'll clarify its clinical presentation, how it develops, why it matters, and what new treatments are emerging for patients facing this diagnosis.

Symptoms of Cholesteatoma

Cholesteatoma often creeps up silently, but its symptoms can significantly impact quality of life and hearing. Early recognition is essential for prompt treatment and to prevent complications.

Symptom	Description	Frequency/Severity	Source(s)
Otorrhea	Persistent, foul-smelling ear discharge	Most common presenting symptom	1
Hearing Loss	Progressive, often conductive	Frequently severe, especially with tympanic perforation	1,2
Ear Fullness	Sensation of pressure or blockage	Common but less specific	4
Ear Pain	May occur with infection or complications	Variable, often mild unless advanced	4
Vertigo/Dizziness	Balance disturbances, rare unless advanced	Occasional, in advanced disease	8
Tinnitus	Ringing or noise in the ear	Sometimes present	1

Table 1: Key Symptoms

Otorrhea: The Most Telltale Sign

Persistent, often foul-smelling ear discharge (otorrhea) is the hallmark of cholesteatoma and the most frequent complaint bringing patients to medical attention. This discharge is typically chronic and resistant to standard treatments, distinguishing it from other causes of ear drainage 1.

Hearing Loss: Progressive and Often Severe

Hearing loss is the second most common symptom. Most patients experience conductive hearing loss due to disruption of the ossicular chain by the expanding cholesteatoma. In cases with tympanic membrane perforation, hearing loss is even more profound, with average thresholds reaching 60 dB or more 1. Sensorineural hearing loss may develop if the disease advances to inner ear structures 2.

Other Symptoms: Fullness, Pain, and Complications

Some patients report a sense of fullness or pressure in the affected ear 4. Ear pain is less common but may occur, especially if secondary infection or complications develop. Vertigo, dizziness, and tinnitus are late findings, often indicating more advanced or complicated disease with possible invasion into balance organs or the inner ear 8.

Complications: When Symptoms Signal Danger

Advanced cholesteatoma can cause facial nerve weakness, severe pain, profound hearing or balance loss, and even life-threatening intracranial infections. These symptoms mandate urgent evaluation and intervention 8.

Types of Cholesteatoma

Cholesteatoma is not a single disease. Understanding its various forms is essential for accurate diagnosis and management.

Type	Defining Feature	Age Group / Frequency	Source(s)
Congenital	Keratinizing cyst behind intact eardrum	Children, rare	4,5
Acquired	Grows due to eardrum retraction/migration	All ages, most common	2,3,9
Attic	Originates in upper eardrum (pars flaccida)	41% of acquired cases	2
Pars Tensa	Arises from lower eardrum (pars tensa)	45% of acquired cases	2
Combined	Involves both attic and pars tensa areas	14% of acquired cases	2

Table 2: Cholesteatoma Types

Congenital Cholesteatoma

This rare form arises from embryonic epithelial cell rests trapped in the middle ear during development. It presents as a pearly white mass behind an intact tympanic membrane, usually in children without a history of ear infections or surgery 4,5. Improved imaging has led to increased detection of these cases 4.

Acquired Cholesteatoma

Acquired cholesteatoma is far more common and typically develops after birth. It is closely linked to chronic middle ear disease and eardrum dysfunction. It often arises from a retraction pocket in the tympanic membrane that collects keratinizing epithelium 2,3,9.

Subtypes of Acquired Cholesteatoma

• Attic (Pars Flaccida) Cholesteatoma: Originates from the upper part of the eardrum (attic). It accounts for about 41% of acquired cases and is prone to recurrence if not meticulously managed 2.
• Pars Tensa Cholesteatoma: Develops from the main body of the eardrum (pars tensa), making up 45% of cases. These often have worse ossicular damage 2.
• Combined Type: Involves both attic and pars tensa regions and carries the worst prognosis, due to more extensive disease 2.

Childhood Cholesteatoma: More Aggressive?

Children can develop either congenital or acquired cholesteatoma. Pediatric forms tend to be more aggressive, with a higher risk of recurrence and complications, although the reasons remain unclear 4,5.

Causes of Cholesteatoma

The origins of cholesteatoma are multifaceted, involving anatomical, inflammatory, and sometimes genetic factors. No single cause explains all cases, and much about its pathogenesis remains under investigation.

Cause	Mechanism/Description	Notes/Implications	Source(s)
Eardrum Retraction	Negative pressure pulls eardrum inward	Creates pocket trapping skin	3,9
Chronic Infection	Inflammation damages eardrum/mucosa	Promotes retraction/migration	3,7,8
Epithelial Migration	Skin migrates abnormally into middle ear	Especially after trauma/surgery	3,9
Congenital Inclusion	Embryonic cell rest left in middle ear	Non-infectious, rare	3,4
Genetic Factors	Possible genetic predisposition	Under study, not fully defined	10
Defective Wound Healing	Abnormal healing response to injury	Leads to overgrowth of epithelium	7

Table 3: Causes and Mechanisms of Cholesteatoma

Retraction Pockets and Negative Pressure

The most widely accepted theory for acquired cholesteatoma is the formation of a retraction pocket in the tympanic membrane, usually secondary to Eustachian tube dysfunction. Negative middle ear pressure draws the eardrum inward, forming a pocket that traps keratinizing epithelium 3,9. Over time, this pocket deepens and accumulates skin debris, which cannot be naturally expelled.

Chronic Infection and Inflammation

Long-standing middle ear infections (otitis media) contribute by causing chronic inflammation. Inflammatory cytokines and bacterial biofilms drive abnormal skin growth and bone resorption, setting the stage for cholesteatoma formation and progression 3,7,8.

Epithelial Migration and Trauma

Epithelial migration theory proposes that, following tympanic membrane perforation or surgery, skin cells migrate abnormally into the middle ear, seeding cholesteatoma 3,9. This process may be accelerated by repeated infections or trauma to the ear.

Congenital Inclusion

Congenital cholesteatoma arises from embryonic cell rests that become trapped in the middle ear during fetal development. These cases are unrelated to infection or trauma 3,4.

Genetic and Molecular Factors

Emerging research suggests there may be genetic predispositions to cholesteatoma, though specific genes or inheritance patterns are not yet clearly defined 10. Some studies liken cholesteatoma growth to a defective wound healing process rather than a true tumor 7.

Treatment of Cholesteatoma

The destructive potential of cholesteatoma makes timely treatment essential. Surgery is the mainstay, but techniques and strategies are evolving to improve outcomes and reduce recurrence.

Treatment	Approach/Technique	Outcome/Notes	Source(s)
Surgery	Canal wall down (CWD), canal wall up (CWU), tympanoplasty	Mainstay, choice depends on disease extent	6,13,15
Endoscopic Surgery	Minimally invasive, uses endoscope	Lower recurrence, less invasive	13,14
Second-Look Surgery	Planned follow-up operation	Detects/rescues recurrence	15,6
Ossiculoplasty	Reconstruction of hearing bones	Improves hearing, various materials used	1,2
Cell Sheet Transplant	Tissue-engineered mucosa replacement	Experimental, promotes healing	12
Imaging Follow-Up	CT, MRI to monitor for recurrence	Essential for detecting residual disease	4,6

Table 4: Treatment Approaches for Cholesteatoma

Surgery: The Cornerstone of Management

Surgical removal is the only curative treatment for cholesteatoma 8. The primary goals are complete disease eradication, preservation or restoration of hearing, and prevention of recurrence or complications.

Canal Wall Down (CWD) vs. Canal Wall Up (CWU)

• CWD Surgery: Involves removing the posterior canal wall to ensure all disease is accessible and removed. It traditionally offers lower recurrence but requires ongoing ear care and may impact hearing 6.
• CWU Surgery: Preserves the canal wall, aiming for a more natural ear structure and potentially better hearing outcomes. However, it carries a higher risk of residual or recurrent disease, necessitating careful follow-up 6,15.
• Tympanoplasty Alone: Used in select cases without extensive bone involvement 6.

The trend in recent years is toward more CWU procedures, with CWD reserved for extensive or recurrent disease 6.

Endoscopic Ear Surgery (EES)

Minimally invasive endoscopic techniques are increasingly popular. Meta-analyses suggest they reduce the risk of residual or recurrent cholesteatoma compared to traditional microscopic surgery, with similar hearing outcomes and operative times 13,14. EES allows better visualization of hidden recesses in the middle ear, improving disease clearance 13.

Second-Look Surgery and Imaging

Due to the risk of recurrence, especially after CWU or endoscopic approaches, a planned "second-look" operation or interval MRI is often recommended to detect and remove any residual disease before complications arise 15,4,6.

Ossiculoplasty: Hearing Restoration

Reconstruction of the ossicular chain (ossiculoplasty) may be performed at the time of initial surgery or as a staged procedure. Various materials, including autologous cartilage, bone, and prosthetic implants (hydroxylapatite, titanium), are used to restore conductive hearing 1,2.

Innovative Treatments: Cell Sheet Transplantation

Experimental techniques, like transplantation of tissue-engineered nasal mucosal cell sheets during surgery, show promise in improving healing and reducing recurrence by restoring the middle ear's mucosal lining 12.

Postoperative Follow-Up

Regular follow-up with clinical exams and imaging (diffusion-weighted MRI and/or CT) is crucial to monitor for recurrence, especially in children and patients treated with CWU or endoscopic techniques 4,6.

Conclusion

Cholesteatoma is a deceptively benign-appearing but potentially devastating disease of the middle ear. Its symptoms, types, causes, and treatments are diverse and evolving. Early recognition and expert surgical management are vital to avoid complications and preserve hearing.

Main Points Covered:

• Symptoms: Persistent ear discharge and hearing loss are most common; complications can be severe 1,4,8.
• Types: Congenital (rare, children) and acquired (common, adults/children) forms, with subtypes based on location 2,4,5.
• Causes: Multifactorial, including eardrum retraction, chronic infection, abnormal epithelial migration, congenital factors, and possibly genetics 3,7,9,10.
• Treatment: Surgery is the mainstay, with evolving techniques (endoscopic, CWU/CWD, cell sheet transplantation). Regular follow-up is critical to detect recurrence 6,13,12.

With advances in surgical techniques and imaging, outcomes for cholesteatoma patients continue to improve. However, ongoing research is needed to further reduce recurrence and enhance quality of life for those affected.