Abstract
Otosclerosis is a primary bone disorder of the otic capsule characterized by abnormal bone remodeling, leading to progressive conductive or mixed hearing loss, often accompanied by tinnitus. It affects approximately 0.3-0.4% of Caucasians, with lower prevalence in Asian and African populations, and accounts for 5-10% of adult-onset conductive hearing loss worldwide. Beyond auditory dysfunction, patients may present with associated symptoms such as tinnitus, vertigo, and, less commonly, rhinitis-like complaints due to Eustachian tube dysfunction, impacting quality of life. We present two cases—one fenestral and one cochlear otosclerosis—illustrating the clinical spectrum. HRCT remains the gold standard, while MRI assists in assessing cochlear involvement and excluding mimics. Advanced modalities, including ultra-high-resolution CT and photon-counting detector CT, further enhance lesion characterization. Given its global burden and potential for misdiagnosis, this study underscores the need for heightened awareness, timely imaging, and close collaboration between radiologists and otolaryngologists to optimize outcomes.
5. Discussion
5.1. Prevalence and Demographics
Otosclerosis is a major cause of acquired hearing loss, affecting an estimated 15 million people in the United States
[3] | Lin T Rheinboldt M. Fenestral otosclerosis. Appl Radiol. 2018; (11): 37-39. |
[3]
. The
prevalence of clinical otosclerosis is 0.3-0.4% in Caucasians, but only 0.5% in Asians and 0.1% in African-Americans
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[3] | Lin T Rheinboldt M. Fenestral otosclerosis. Appl Radiol. 2018; (11): 37-39. |
[4] | El Omri M, Mouna B, Chelly S, Ghammem M, Haouas J, Meherzi A, et al. Imaging of Otosclerosis: Radio-surgical Correlation. EJENTAS. 2023; 2023: 171089. |
[2-4]
.
Histological otosclerosis is more common, reported in up to 13% of autopsy studies
[3] | Lin T Rheinboldt M. Fenestral otosclerosis. Appl Radiol. 2018; (11): 37-39. |
[4] | El Omri M, Mouna B, Chelly S, Ghammem M, Haouas J, Meherzi A, et al. Imaging of Otosclerosis: Radio-surgical Correlation. EJENTAS. 2023; 2023: 171089. |
[3, 4]
. Otosclerosis shows
bilateral involvement in up to 70-80% of cases. It may be syndromically associated with
Van der Hoeve syndrome,
osteogenesis imperfecta (blue sclera, bone fragility), and
Paget’s disease The disease shows a female predominance (2:1), with onset usually between the second and fifth decades
[3] | Lin T Rheinboldt M. Fenestral otosclerosis. Appl Radiol. 2018; (11): 37-39. |
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[8] | Purohit B, Op de Beeck K, Hermans R. Role of MRI as first-line modality in the detection of previously undiagnosed otosclerosis: a single tertiary institute experience. Insights Imaging. 2020 May 19; 11(1): 71. https://doi.org/10.1186/s13244-020-00878-3 |
[3, 6, 8]
.
5.2. Genetic Predisposition and Pathogenesis
Genetic predisposition plays a major role, with
autosomal dominant inheritance and incomplete penetrance described
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[1]
. A positive family history is seen in ~60% of cases
[4] | El Omri M, Mouna B, Chelly S, Ghammem M, Haouas J, Meherzi A, et al. Imaging of Otosclerosis: Radio-surgical Correlation. EJENTAS. 2023; 2023: 171089. |
[4]
. To date,
eight loci (OTSC1-5, 7, 8, 10) have been mapped. Candidate genes include
COL1A1/COL2A1 (collagen synthesis),
TGF-β1, BMP2, BMP4 (bone metabolism),
RELN (neuronal migration),
VDR (vitamin D regulation), and
SERPINF1 [4] | El Omri M, Mouna B, Chelly S, Ghammem M, Haouas J, Meherzi A, et al. Imaging of Otosclerosis: Radio-surgical Correlation. EJENTAS. 2023; 2023: 171089. |
[11] | Lazzerini F, Forli F, Capobianco S, et al. Current trends in imaging for otosclerosis and the potential role of photon-counting computed tomography. Acta Otorhinolaryngol Ital 2025; 45(3-Suppl. 1): S18-S28. https://doi.org/10.14639/0392-100X-suppl.1_3-45-2025-A1335 |
[4, 11]
.
Osteoprotegerin (OPG) has been identified as a protective factor preventing abnormal otic capsule remodeling; OPG-deficient mice mimic otosclerosis
. Environmental triggers such as the
measles virus may also play a role
.
5.3. Clinical Presentation and Diagnosis
Patients usually present with
progressive conductive hearing loss, sometimes progressing to mixed or rarely pure SNHL
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[5] | NHS. Otosclerosis [Internet]. 2023 [cited 2024 May 16]. Available from: https://www.nhs.uk/conditions/otosclerosis/ |
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[7] | Leposavić L, Leposavić I, Jasović-Gasić M, Milovanović S, Nikolić-Balkoski G. Psychosocial aspects of acquired hearing impairment in the patients with otosclerosis. Psychiatr Danub. 2006 Jun; 18(1-2): 30-8. PMID: 16804497. |
[8] | Purohit B, Op de Beeck K, Hermans R. Role of MRI as first-line modality in the detection of previously undiagnosed otosclerosis: a single tertiary institute experience. Insights Imaging. 2020 May 19; 11(1): 71. https://doi.org/10.1186/s13244-020-00878-3 |
[2, 5-8]
. Associated symptoms include
tinnitus and less commonly vertigo
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[8] | Purohit B, Op de Beeck K, Hermans R. Role of MRI as first-line modality in the detection of previously undiagnosed otosclerosis: a single tertiary institute experience. Insights Imaging. 2020 May 19; 11(1): 71. https://doi.org/10.1186/s13244-020-00878-3 |
[6, 8]
. Audiometry typically shows
air-bone gap, Carhart notch, and absent stapedial reflexes
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[5] | NHS. Otosclerosis [Internet]. 2023 [cited 2024 May 16]. Available from: https://www.nhs.uk/conditions/otosclerosis/ |
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[2, 5, 6]
. Otoscopy is often normal, though in some patients the
Schwartze sign (promontory blush) may be visible
[3] | Lin T Rheinboldt M. Fenestral otosclerosis. Appl Radiol. 2018; (11): 37-39. |
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[3, 9]
.
5.4. Imaging Modalities and Findings
High-Resolution CT (HRCT)
HRCT is the
gold standard for diagnosing and staging otosclerosis
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[5] | NHS. Otosclerosis [Internet]. 2023 [cited 2024 May 16]. Available from: https://www.nhs.uk/conditions/otosclerosis/ |
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[2, 5, 9]
.
Findings: Fenestral hypodensities at the fissula ante fenestram, footplate thickening, and the
“double-ring/halo sign” around the cochlea in retrofenestral disease
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[2, 9]
.
Sensitivity/Specificity: Reported sensitivity ranges
34-95%, with an average pooled sensitivity ~58% and specificity ~95%
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[1, 2, 6]
. Positive predictive value is >90%
. HRCT is most reliable for fenestral disease but less sensitive for tiny foci (<1 mm), retrofenestral lesions, and inactive dense foci
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[1, 2]
.
Limitations: Vulnerable to slice thickness >1 mm; hypodense vascular connective tissue can mimic disease leading to false positives
.
Bone density quantification studies have shown significantly reduced Hounsfield units in otosclerosis compared to normal otic capsule
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[2] | Kanzara T, Virk JS. Diagnostic performance of high resolution computed tomography in otosclerosis. World J Clin Cases. 2017 Jul 16; 5(7): 286-291. https://doi.org/10.12998/wjcc.v5.i7.286 |
[1, 2]
.
Magnetic Resonance Imaging (MRI)
MRI is less sensitive than HRCT but can identify active disease and exclude mimics
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[9]
.
Findings: Pericochlear intermediate T1 signal, perilabyrinthine enhancement post-contrast, and curvilinear T2 hyperintensities
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[9]
.
Utility: Useful in cases of predominant SNHL/tinnitus or when HRCT is negative but suspicion remains. MRI also rules out mimics such as vestibular schwannoma, Paget’s disease, or osteogenesis imperfecta
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[9]
.
Advanced Imaging Techniques
Recent advances have significantly improved diagnostic yield
Cone-beam CT (CBCT): Ultra-high spatial resolution and reduced dose; useful in preoperative assessment but limited by density calibration and artifacts
.
Photon-counting detector CT (PCDCT): Converts photons directly to electrical signals, yielding better contrast, fewer artifacts, improved dose efficiency, and superior visualization of foci and prosthesis positioning
.
Ultra-high-resolution CT (UHRCT): Submillimeter isotropic imaging with improved detection of small fenestral foci compared with standard HRCT
.
Comparative studies demonstrate that while HRCT remains the standard, PCDCT and UHRCT offer superior visualization of both early fenestral lesions and postoperative prostheses, and may become the new benchmark for otosclerosis imaging
. However, they are not yet standard of care due to cost, accessibility, and technical constraints. They are instead positioned as potential future directions.
5.5. Radiological Classification and Prognosis
The
Veillon classification is commonly applied
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[1, 6]
:
1) Group I: No radiological abnormality.
2) Group II (Ia-II): Minimal lesions without cochlear contact (footplate thickening, small pre-stapedial foci).
3) Group III: Foci in contact with the cochlear lumen.
4) Group IV (IVa/IVb): Extensive pericochlear or perivestibular lesions.
Prognostic implications:
Extensive (IV): Associated with poor pre/postoperative thresholds, reduced bone conduction gain, and higher complication rates
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[1]
.
Type III lesions: Despite minimal cochlear contact, patients show excellent postoperative outcomes, with >50% achieving >10 dB BC gain
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[1, 6]
.
Localized fenestral disease: Predicts favorable outcomes with air-bone gap closure after stapes surgery
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[6]
.
Variability in HRCT findings of otosclerosis arises from differences in
scanner technology (detector type, slice thickness, reconstruction algorithms),
radiologist expertise, and the
stage of disease at presentation. Early otospongiotic foci may be subtle and easily overlooked, whereas advanced sclerotic changes are more conspicuous. These factors explain the wide range of reported detection rates and diagnostic accuracy in the literature
[12] | Lagleyre S, Sorrentino T, Calmels MN, Shin YJ, Escudé B, Deguine O, Fraysse B. Reliability of high-resolution CT scan in diagnosis of otosclerosis. Otol Neurotol. 2009 Dec; 30(8): 1152-9. https://doi.org/10.1097/MAO.0b013e3181c2a084 |
[12]
.
5.6. Differential Diagnosis
Several pathologies can mimic otosclerosis radiologically:
1)
Osteogenesis imperfecta: Diffuse otic capsule demineralization plus systemic skeletal fragility, blue sclera
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[6]
.
2)
Paget’s disease: “Cotton-wool” skull with generalized thickening and coarsening of trabeculae
[6] | Driscoll CLW, Carlson ML, Patel NS. Otosclerosis. In: Lalwani AK, editor. Current Diagnosis & Treatment Otolaryngology—Head and Neck Surgery. 4th ed. McGraw-Hill Education; 2020. |
[6]
.
3)
Cholesteatoma: Soft-tissue lesion with bony erosion of middle ear cavity
.
4)
Osteonecrosis: Patchy sclerosis and lucency not localized to fissula ante fenestram
.
5)
Otosyphilis: Aggressive destructive lesions with contrast-enhancing soft tissue
.
5.7. Treatment
Conventional Approaches
Hearing aids: Beneficial in early/mild cases but do not halt progression
[8] | Purohit B, Op de Beeck K, Hermans R. Role of MRI as first-line modality in the detection of previously undiagnosed otosclerosis: a single tertiary institute experience. Insights Imaging. 2020 May 19; 11(1): 71. https://doi.org/10.1186/s13244-020-00878-3 |
[8]
.
Surgery: Stapedotomy/stapedectomy remains the gold standard for fenestral disease, with air-bone gap closure in most patients
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[8] | Purohit B, Op de Beeck K, Hermans R. Role of MRI as first-line modality in the detection of previously undiagnosed otosclerosis: a single tertiary institute experience. Insights Imaging. 2020 May 19; 11(1): 71. https://doi.org/10.1186/s13244-020-00878-3 |
[1, 8]
.
Laser-assisted stapedotomy (CO₂/KTP lasers) has improved safety and precision.
Advanced and Adjunctive Treatments
HRCT-assisted surgical planning: Allows preoperative prosthesis length prediction and assessment of anatomical risk factors
[1] | Halily S, Abdulhakeem B, Oukessou Y, Rouadi S, Abada R, Roubal M, Mahtar M. CT scan findings impact on hearing thresholds in otosclerosis: A study of 108 patients. Ann Med Surg (Lond). 2022 May 2; 77: 103716. https://doi.org/10.1016/j.amsu.2022.103716 |
[1]
.
Medical therapy:
Sodium fluoride: Previously used, but evidence remains limited
.
Bisphosphonates: Promising in preliminary studies for stabilizing cochlear disease by inhibiting osteoclast-mediated bone resorption
but robust clinical trial data is still lacking to recommend them routinely. Cochlear implantation: Reserved for profound SNHL or failed stapes surgery, with good functional outcomes in advanced retrofenestral disease
[5] | NHS. Otosclerosis [Internet]. 2023 [cited 2024 May 16]. Available from: https://www.nhs.uk/conditions/otosclerosis/ |
[9] | Cai L, Xu Y, Liu Y, Chen Q. Study on Genetic Factors of Otosclerosis: Review. Ann Otolaryngol Rhinol. 2022; 9(3): 1289. |
[5, 9]
.