Adult-onset congenital cholesteatoma in the hypotympanum initially presenting as Bell's palsy: A case report.

INTRODUCTION: Cholesteatoma is a rare disease characterized by the accumulation of keratinized squamous epithelial cells in the middle ear or mastoid cavity. Vertigo and facial palsy, which are rare complications, may indicate erosion into the semicircular canals or the fallopian canal. PATIENT CONCERNS: A 40-year-old woman presented to our clinic with progressive right-sided hearing loss over 5 years (primary concern). Approximately 10 years ago, the patient had developed acute right-sided facial weakness with no additional symptoms. A neurologist at another hospital had diagnosed her condition as Bell's palsy and treated it accordingly. DIAGNOSIS: Adult-onset congenital cholesteatoma in the hypotympanum. INTERVENTION: Combined endoscopic and microscopic removal of the cholesteatoma. OUTCOMES: Physical examination revealed slight improvement in right-sided peripheral facial palsy. LESSON: Routine eardrum examination is recommended for patients presenting with isolated peripheral facial palsy. If necessary, a patient should be referred to an otologist for further evaluation and treatment.

Predicting residual cholesteatoma with the Potsic staging system still lacks evidence: a systematic review and meta-analysis.

PURPOSE: To investigate the rate of residual disease in the Potsic staging system for congenital cholesteatomas. METHODS: A protocol registration was published on PROSPERO (CRD42022383932), describing residual disease as a primary outcome and hearing improvement as secondary. A systematic search was performed in four databases (PubMed, Embase, Cochrane Library, Web of Science) on December 14, 2022. Articles were included if cholesteatomas were staged according to the Potsic system and follow-up duration was documented. Risk of bias was evaluated using the Quality In Prognosis Studies (QUIPS) tool. In the statistical synthesis a random effects model was used. Between-study heterogeneity was assessed using I2. RESULTS: Thirteen articles were found to be eligible for systematic review and seven were included in the meta-analysis section. All records were retrospective cohort studies with high risk of bias. Regarding the proportions of residual disease, analysis using the χ2 test showed no statistically significant difference between Potsic stages after a follow-up of minimum one year (stage I 0.06 (confidence interval (CI) 0.01-0.33); stage II 0.20 (CI 0.09-0.38); stage III 0.06 (CI 0.00-0.61); stage IV: 0.17 (CI 0.01-0.81)). Postoperative and preoperative hearing outcomes could not be analyzed due to varied reporting. Results on cholesteatoma location and mean age at staging were consistent with those previously published. CONCLUSION: No statistically significant difference was found in the proportions of residual disease between Potsic stages, thus the staging system's applicability for outcome prediction could not be proven based on the available data. Targeted studies are needed for a higher level of evidence.

Congenital cholesteatoma: what radiologists need to know.

Congenital cholesteatoma is a rare, non-neoplastic lesion that causes conductive hearing loss in children. It is underrecognized and often diagnosed only when there is an established hearing deficit. In the pediatric population, hearing deficiency is particularly detrimental because it can impede speech and language development and, in turn, the social and academic well-being of affected children. Delayed diagnosis leads to advanced disease that requires more extensive surgery and a greater chance of recurrence. A need to promote awareness and recognition of this condition has been advocated by clinicians and surgeons, but no comprehensive imaging review dedicated to this entity has been performed. This review aims to discuss the diagnostic utility of high-resolution computed tomography and magnetic resonance imaging in preoperative and postoperative settings in congenital cholesteatoma. Detailed emphasis is placed on the essential preoperative computed tomography findings that facilitate individualized surgical management and prognosis in the pediatric population.

Monozygotic twins and cholesteatomas: nature or nuture?

PURPOSE: Cholesteatoma is a rare middle ear pathology. It can be classified into acquired and congenital forms. Although benign, cholesteatomas can cause significant morbidity including hearing loss, infection, facial palsy and thrombosis. Congenital cholesteatomas are incredibly rare and bilateral disease has not commonly been published in the literature. METHOD: We describe the case of female identical (monozygotic, monochorionic, diamniotic) twins who both developed congenital cholesteatomas. In this report, we review the aetiology, treatment, embryology and pathology of cholesteatoma. RESULTS: The patients have been followed up 15 years after their initial surgery with promising results - pure-tone audiometry and repeat scans have not illustrated any disease recurrence. CONCLUSION: This paper presents one of the only cases of female monozygotic twins presenting with unilateral and bilateral cholesteatomas.

The role of planned two-stage surgery in the management of congenital cholesteatoma.

OBJECTIVE: The purpose of this study is to verify the role of "planned two-stage surgery" in the management of advanced congenital cholesteatoma regarding disease recurrence rates, complications and the need for salvage surgery. METHOD: Retrospective review of all congenital cholesteatoma under the age of 18 years underwent surgery from October 2007 to December 2021 in a single tertiary referral center. Patients with Potsic stage I/II who had closed-type congenital cholesteatoma received one-stage surgery. Advanced cases or those with open-type infiltrative congenital cholesteatomas underwent planned two-stage surgery. The second stage of surgery was performed 6-10 months after the first stage of surgery. Ossiculoplasty would be performed in the second operation if a significant air-bone gap was detected in the preoperative pure-tone audiometry test. RESULTS: Twenty-four patients were included in the series. Six patients received one-stage surgery and no recurrence was noted in this group. The remaining 18 underwent planned two-stage surgery. Residual lesions found in the second operative phase were observed in 39% of patients who received planned two-stage surgery. Except for one patient whose ossicular replacement prosthesis protruded and two patients who had perforated tympanic membranes, none of the 24 patients required salvage surgery during follow-up (mean, 77 months after surgery), and no major complications occurred. CONCLUSIONS: Planned two-stage surgery for advanced-stage or open infiltrative congenital cholesteatoma could timely detect residual lesions to avoid extensive surgery and reduce complications.

Colesteatoma congénito: revisión de la literatura / Congenital cholesteatoma: literature review

El colesteatoma congénito es una entidad clínica única y desafiante, que se caracteriza por acumulación anormal de queratina en el oído medio, medial a la membrana timpánica. Se presenta, mayoritariamente, en el género masculino, con una incidencia estimada de 0.12 por 100.000 habitantes, representando el 4% a 24% de los colesteatomas en población pediátrica y un 2% a 5% del total de colesteatomas. Su origen aún es controversial, siendo la teoría más aceptada, la del arresto epitelial. Su diagnóstico es clínico, variando la sintomatología según severidad del compromiso, presentándose desde hallazgo incidental, hipoacusia de conducción, hasta presentar otalgia y perforación timpánica. Las imágenes se consideran un apoyo complementario preoperatorio. El tratamiento es quirúrgico, con diferentes técnicas disponibles, las cuales se deben definir de manera individual en el caso de cada paciente. Es fundamental su diagnóstico y manejo precoz, para lograr un tratamiento oportuno con menor tasa de complicaciones y compromiso a largo plazo. A continuación, se presenta una revisión de la literatura respecto de esta patología, para difusión en nuestro medio.

Congenital cholesteatoma (CC) is a unique and challenging clinical entity characterized by abnormal accumulation of keratin in the middle ear, medial to the tympanic membrane, being more frequent in the male gender, with an estimated incidence of 0.12 per 100,000 inhabitants. It represents 4% to 24% of cholesteatomas in the pediatric population and 2% to 5% of all cholesteatomas. Its cause is still controversial, the most accepted theory being epithelial arrest. The diagnosis is clinical, varying the symptoms according to the severity of the compromise, from incidental finding, through conduction hearing loss, to presenting otalgia and tympanic perforation. Images are considered additional preoperative support. Treatment is predominantly surgical, with different techniques available, which must be defined individually. Its early discovery and management are essential to achieve proper treatment with a lower rate of complications and long-term commitment. We present a review of the literature regarding CC to provide information relevant to our area of expertise.

Colesteatoma congénito: caso clínico y revisión de literatura / Congenital cholesteatoma: clinical case and literature review

El colesteatoma congénito (CC) es una lesión benigna de epitelio escamoso queratinizado que puede afectar diferentes aéreas del hueso temporal con predominio en el oído medio. El CC es una patología poco frecuente que se presenta en pacientes pediátricos y clínicamente se manifiesta como una lesión blanquecina detrás de un tímpano indemne. La mayoría de los pacientes no presenta historia de hipoacusia, otorrea, infección, perforación o cirugía otológica previa. Se analiza el caso de un prescolar con CC que consultó con trastorno de sueño sin sintomatología otológica, pero con otoscopía alterada como hallazgo clínico. En la resonancia magnética nuclear (RMN) con secuencia de difusión, se evidenciaron hallazgos sugerentes de lesión colesteatomatosa en oído medio. Se realizó tratamiento quirúrgico endoscópico combinado con remoción completa de la lesión compatible histológicamente con CC y reconstrucción funcional con prótesis inactiva con resultado auditivo satisfactorio. El CC requiere alta sospecha diagnóstica por pediatras y otorrinolaringólogos, siendo imprescindible realizar un examen físico acucioso que incluya otoscopía de rutina, aunque el paciente no manifieste síntomas otológicos. El tratamiento es quirúrgico y debe considerar uso de endoscópico para asegurar una extracción completa de la lesión. En algunos casos es requerido realizar una reconstrucción auditiva para asegurar un óptimo resultado funcional.

Congenital cholesteatoma (CC) is a benign lesion of keratinized squamous epithelium that can affect different areas of the temporal bone, predominantly in the middle ear. CC is a rare pathology that occurs in pediatric patients and clinically manifests as a white lesion behind an intact eardrum. Most patients do not have a history of hearing loss, otorrhea, infection, perforation, or previous otologic surgery. The following, is the case of an infant with CC who consulted with a sleep disorder without otological symptoms but with altered otoscopy as a clinical finding. Nuclear magnetic resonance (NMR) with diffusion sequence with findings compatible with a cholesteatomatous lesion in the middle ear. Endoscopic surgical treatment was performed combined with complete removal of the lesion histologically compatible with CC and functional reconstruction with inactive prosthesis with satisfactory hearing results. CC requires high diagnostic suspicion by paediatrics and otorhinolaryngologists, and it is essential to perform a thorough physical examination that includes routine otoscopy even if the patient does not show otological symptoms. Treatment is surgical and endoscopic use should be considered to ensure complete removal of the lesion. In some cases, hearing reconstruction is required to ensure optimal functional results.

[Diagnosis and treatment of congenital temporal bone cholesteatoma].

Congenital temporal bone cholesteatoma is a rare lesion in otolaryngology.The disease is locally invasive and may lead to significant complications,including hearing loss（conductive or sensorineural）, temporal bone destruction and intracranial invasion. This article reviews the characteristic symptoms of congenital temporal bone cholesteatoma, testing and imaging of the disease, stage and the current treatment options in order to promote awareness to this rare disease entity and perform early surgical treatment, effectively avoid the destruction of the temporal bone and its surrounding structures, thereby reducing the occurrence of complications. By improving the understanding of the disease and performing early surgical treatment, the destruction of the temporal bone and its surrounding structures can be effectively avoided, thereby reducing the occurrence of complications.

A Giant Congenital Mastoid Cholesteatoma With Extension to the Occipital Condyle.

A congenital mastoid cholesteatoma (CMC) is a keratinizing epithelium originating from embryological epithelial tissue of the mastoid. It is often not diagnosed until it becomes large because of its rarity and indolent nature. Although there are a few reports on giant CMC, its exact extensions have not been well described, and detailed information regarding surgical methods is lacking, especially in giant CMC involving the occipital condyle and the middle and posterior cranial fossae. In this article, we report a case involving a 70-year-old woman with a giant CMC that extended inferiorly to the occipital condyle. The CMC eroded the middle and posterior cranial fossae, sigmoid sinus plate, and fallopian canal of the facial nerve. For complete removal, we used a subtotal petrosectomy in conjunction with an exposure of the cranial cervical junction and a wide decompression of the suboccipit. The boundaries of exposure were similar to those of a petro-occipital transsigmoid approach which is usually used for management of tumor involving the jugular foramen. The wide exposure allowed for complete removal of the lesion without any complications. Thus, we recommend this surgical approach for management of the giant CMC involving the occipital condyle and the middle and posterior cranial fossae.

Congenital cholesteatoma in identical twins.

Congenital cholesteatoma in identical twins has only been described once in Otolaryngology literature thus far. This report describes a case of monozygotic twins with a history of recurrent acute otitis media and bilateral middle ear effusions without tympanic membrane perforation. Upon myringotomy with pressure equalization tube insertion, both were found to have right-sided cholesteatoma with nearly identical location and pattern of progression. In the context of previous case series demonstrating familial clustering and reports of possible genetic associations of this condition, the authors present an important addition to the current understanding of congenital cholesteatoma disorder.

[Congenital cholesteatoma of the mastoid process: cases of diagnosis and surgical treatment]. / Vrozhdennaya kholesteatoma sostsevidnogo otrostka visochnoi kosti: sluchai diagnostiki i khirurgicheskogo lecheniya.

A brief review of the epidemiology and pathogenesis of congenital cholesteatoma (CC) of the temporal bone pyramid is presented, classifications reflecting the degree of spread or localization of the process are considered. Variants of local CCs of the mastoid process don't fit into these classifications, as well as there is no statistics on the frequency of their detection and treatment due to the rarity of this pathology. Clinical cases of diagnosis, surgical treatment of CC of the mastoid process and its results are described. Clinical examples indicate a long-term asymptomatic course of CC of the mastoid process, accompanied by a pronounced destructive process in the mastoid process. Early surgical treatment makes it possible to remove the neoplasm as radically as possible and preserve hearing function.

Treatment results for congenital cholesteatoma using transcanal endoscopic ear surgery.

PURPOSE: Transcanal endoscopic ear surgery for congenital cholesteatoma provides a smaller incision and better visibility than conventional surgical microscope ear surgery. We aimed to evaluate the treatment results of transcanal endoscopic ear surgery in ameliorating the recurrence and post-operative complications of pediatric congenital cholesteatoma. MATERIALS AND METHODS: A retrospective chart review was conducted on patients with congenital cholesteatoma who underwent transcanal endoscopic ear surgery at a tertiary referral medical center from January 2012 to December 2020. We categorized the patients into two groups according to the presence of remnant cholesteatoma and compared their characteristics. RESULTS: This study included 46 patients (32 males and 14 females; 46 ears). The mean age was 3.0 ± 2.6 (1-17) years. Congenital cholesteatoma was predominantly located in the anterior-superior quadrant (63.0 %), and ossicular involvement was confirmed in six cases. The mean cholesteatoma size identified by temporal bone computed tomography was 3.9 ± 2.0 (1.2-13) mm. Seven cases had remnant cholesteatoma lesions (15.2 %); four improved after revision surgery, and three were followed up without immediate further intervention. Postoperative complications (e.g., tympanic membrane perforation, retraction) were observed in 10 cases. Comparative evaluations of various characteristics after categorizing the participants into residual and non-residual lesion groups revealed no significant differences. CONCLUSIONS: Consequently, transcanal endoscopic ear surgery can be considered an effective and safe operation for treating congenital cholesteatoma in the pediatric population with no serious side effects. Further large-scale research with hearing test results should be conducted meticulously as a follow-up to this study.

A Unified Classification of Middle Ear and Petrous Bone Congenital Cholesteatomas.

BACKGROUND: The aim of this study was to classify congenital cholesteatoma along an entire spectrum of involvement ranging from the middle ear to petrous apex. METHODS: A total of 131 patients (85 adults and 46 children) underwent operations for congenital cholesteatoma over the duration of 27 years. RESULTS: For most cases, middle ear mucosa was normal, the first ossicle eroded by the mass was the stapes, and the mastoid air cell system was well-pneumatized on intraoperative and radiographic views. Totally 34% of patients presented with facial nerve weakness and 45% of these cholesteatomas arose from the supralabyrinthine area (32.8%) and from the petrous apex (12.2%). CONCLUSION: In this unified classification system, the otologist sees congenital cholesteatoma as a continuum, with facial nerve involvement and anacusis as part of the picture. This system of congenital cholesteatoma accommodates the supralabyrinthine and petrous bone locations of the disease.

Endoscopic Ear Surgery for Congenital Cholesteatoma in Children.

BACKGROUND: Endoscopic ear surgery is a promising technique for removing congenital cholesteatoma in children. It can provide greater visual access to hidden areas of the middle ear and facilitate middle-ear manipulation. This study compares a single-center experience in manag- ing congenital cholesteatoma with an endoscopic approach with that in managing congenital cholesteatoma with a conventional microscopic approach. METHODS: Records of consecutive patients aged under 8 with congenital cholesteatoma confined to the middle ear at our tertiary referral hospital from January 2013 to December 2018 were retrospectively reviewed. Operation time, hospital stay, postoperative complications, and recurrence/residue of congenital cholesteatoma were compared between patients receiving microscopic versus endoscopic surgery. RESULTS: A total of 33 pediatric patients aged from 19 months to 7 years were enrolled; 12 children underwent microscopic surgery, and 21 received an endoscopic approach for removing congenital cholesteatoma. The mean operative time was 1.61 hours for the microscopic group and 1.49 hours for the endoscopic group without statistical difference. No postoperative sensorineural hearing loss and complications were reported. Four cases of recurrence/residue were observed on the follow-up endoscopic exam or computed tomography, and no differences were shown between the 2 groups. Of the total patients, 94.7% (n=11) in the microscopic group and 90.5% (n=19) in the endoscopic group demonstrated an intact tympanic membrane without perforation or retraction after surgery. No audiological differences were reported between the 2 groups. CONCLUSION: Endoscopic ear surgery can effectively and safely remove congenital cholesteatoma in children and is not inferior to conventional microscopic approaches.

[Clinical analysis and surgical treatment of congenital external auditory canal stenosis complicated with external auditory canal cholesteatoma].

Objective:To investigate the clinical features, diagnosis, and treatment experience of congenital stenosis of an external auditory canal with external auditory canal cholesteatoma. Methods:The clinical data of 152 patients（153 ears） with congenital external auditory canal stenosis complicated with external auditory canal cholesteatoma treated in the Department of Otorhinolaryngology Head and Neck Surgery of Beijing Tongren Hospital affiliated to Capital Medical University from January 2009 to December 2019 were analyzed retrospectively, including the age of onset, clinical manifestations, signs, audiology, high-resolution computed tomography（HRCT） of the temporal bone, mode of operation and so on. According to the preoperative imaging findings, intraoperative findings,and pathological results, 152 patients with congenital external auditory canal stenosis with external auditory canal cholesteatoma were treated with canaloplasty and tympanoplasty while clearing the cholesteatoma. Results:All patients were followed up for 2-2.5 years, there was no recurrence of cholesteatoma, and the reconstructed external auditory canal was spacious. The hearing levels of 108 ears who underwent hearing reconstruction were significantly improved, and the average hearing threshold was reduced by 20-35 dB. Conclusion:The stenosis of the external auditory meatus is easy to be complicated with cholesteatoma of the external auditory canal,and the occurrence of cholesteatoma of the external auditory canal is directly related to the diameter of the external auditory canal meatus.But the time of occurrence of the cholesteatoma is not directly related to the diameter of the external auditory canal. Severe congenital stenosis of the external auditory canal with auricle deformity is easy to be missed and misdiagnosed due to retroauricular redness, swelling, and ulceration. For this kind of patient, cholesteatoma should be treated first, and then plastic surgery such as auricle reconstruction should be performed. Retroauricular incisions should be avoided to create conditions for auricle reconstruction in the future.

Congenital cholesteatoma: Clinical features and surgical outcomes.

OBJECTIVES: A typical presentation of congenital cholesteatoma (CC) is asymmetric conductive hearing loss (CHL). As CHL is usually associated with middle ear effusion, diagnosis of CC is frequently delayed. This study aimed to describe the clinical characteristics, treatment and outcomes of children with CC. METHODS: The medical files of children diagnosed with CC at a large tertiary pediatric medical center during 2000-2019 were reviewed. The primary outcome measures were: presenting symptoms, surgical findings, stage of disease, recurrence rate and hearing outcome. Imaging findings and the size of mastoid air cells were assessed in CT scans. RESULTS: Thirty-nine children were diagnosed with CC. The presenting symptom was unilateral CHL in 85%, with an average speech reception threshold of 41.5 ± 13.7 dB in the affected ear. The mean time from first symptoms to diagnosis was 1.3 years. The surgical approach was exploratory tympanotomy in 25% and canal wall up mastoidectomy in 69%. Seventy percent of the children presented with Potsic stage III-IV. The mean postoperative speech reception threshold was 26.4 ± 12.2 dB (P = 0.002). Recurrence of cholesteatoma occurred in 38% of the patients, mostly in stage III-IV. Mastoid air cell size was significantly smaller on the affected than the unaffected side. CONCLUSIONS: In children with persistent unilateral or asymmetric conductive hearing loss, CC should be suspected. Late diagnosis of CC is associated with a high recurrence rate. This highlights the need to promote awareness to the disease among primary physicians in the community health care system.

Absceso mastoideo como presentación de colesteatoma congénito en preescolar ¿cuál es el origen? / Mastoid abscess as congenital cholesteatoma presentation in a child what is the origin?

Resumen El colesteatoma congénito es una entidad que puede manifestarse con una amplia variedad de síntomas o ser silente durante largo tiempo y constituir un hallazgo incidental. Una vez diagnosticada es importante valorar su extensión y el compromiso de estructuras adyacentes, para lograr una adecuada planificación quirúrgica, eliminando la enfermedad y manteniendo la mejor funcionalidad posible. Se presenta un caso de colesteatoma congénito infantil.

Abstract Congenital cholesteatoma is an entity that can manifest with a wide variety of symptoms or be silent for a long time and constitute an incidental finding. Once diagnosed, it is important to assess the extension to apply the most efficient treatment, eliminating the disease and providing functionality if possible. A case of congenital cholesteatoma in a child is presented.

Congenital Mastoid Cholesteatoma.

BACKGROUND: Congenital cholesteatomas account for just up to 5% of all cholesteatomas and most commonly arise in the petrous apex and middle ear. Congenital cholesteatomas arising in the mastoid are rare and typically present late. METHODS: In this study, we report a case series of 3 cases managed in our department between 2006 and 2021 and present a summary of the current literature. RESULTS: Congenital cholesteatomas arising in the mastoid is a rare finding and even among reported cases, not all are clearly mastoid in origin. Their location allows for considerable growth before symptoms develop. Pain and localized swelling in the temporal area are the most common presenting symptoms which can lead to diagnostic challenges. Our cases show that although surgery is often appropriate, conservative manage- ment may be suitable in certain situations. CONCLUSION: Congenital cholesteatoma of mastoid origin is rare and can present a diagnostic challenge. Greater awareness is important to facilitate early detection. A high index of suspicion is needed in those presenting with retro-auricular pain and swelling in the context of a normal ontological examination.