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.

The Tensor Tympani Tendon: A Hypothetical Site of Origin of Congenital Cholesteatoma.

Multiple theories have been discussed about the etiopathogenesis of congenital middle ear cholesteatoma (CMEC) and its specific site of origin. The intraoperative identification of the precise location of the keratinous mass is important to guarantee its complete removal, in order to reduce the risk of recurrence. This study proposes the tensor tympani tendon (TTT) as a possible site of origin of CMEC. All CMECs treated between 2013 and 2019 were reviewed. Only Potsic stage I lesions were included. Preoperative radiologic images were compared to intraoperative findings. Three removed TTT were sent for histologic evaluation. Seven patients were included (M:F = 3:4). Preoperative CT images were classified as type A in 2 cases (28.6%) and type B in 5 cases (71.4%). At intraoperative evaluation all CMEC sacs were found pedunculated on the TTT. The histologic examinations confirmed the connection between the cholesteatomatous sac and the TTT. According to the correlation of imaging, intraoperative findings and histology, we proposed that the TTT could be the primary site from which CMEC originates.

Isolated Incudostapedial Cholesteatomas: Unique Radiologic and Surgical Features.

OBJECTIVES: Congenital cholesteatomas originate from epithelial tissue present within the middle ear in patients with an intact tympanic membrane, no history of otologic surgery, otorrhea, or tympanic membrane perforation. They are diagnosed by a pearl-like lesion on otoscopy and computed tomography (CT) scan showing an expansile soft-tissue mass. We describe a series of patients with no prior otologic history presenting with progressive unilateral conductive hearing loss and normal otoscopy. The CT scans showed ossicular erosion without obvious soft-tissue mass. Surgery confirmed incudostapedial erosion found to be cholesteatoma. In this study, we characterize the clinical course of patients diagnosed with isolated incudostapedial cholesteatoma (IIC) and review possible pathologic mechanisms. METHODS: Retrospective review of IIC cases treated by the Department of Pediatric Otolaryngology, Rady Children's Hospital, San Diego, 2014 to 2020. Data included patient demographics, clinical features, imaging, surgical findings, and audiologic data. RESULTS: Five patients were diagnosed with IIC (3 [60%] female; mean age at presentation 10.7 years [range 5.5-16.0]). All patients presented with postlingual unilateral conductive hearing loss and normal otoscopy without any past otologic history; delay in diagnosis ranged from 4 months to several years. The CT scans showed ossicular chain erosion with an absent long process of the incus and/or stapes superstructure. All patients underwent middle ear exploration, revealing a thin layer of cholesteatoma in the incudostapedial region, confirmed by histopathology. Mean preoperative speech reception threshold was 55 dB and improved to a mean of 31 dB in the 4 patients who underwent ossicular chain reconstruction. CONCLUSION: Isolated incudostapedial cholesteatoma should be included as a possible etiology in pediatric patients with insidious onset of unilateral conductive hearing loss with normal otoscopy, unremarkable otologic history, and a CT scan showing ossicular abnormality/disruption without notable middle ear mass. These patients should be counseled preoperatively regarding the possibility of cholesteatoma and should undergo middle ear exploration with possible ossiculoplasty.

The Endoscopic Management of Congenital Cholesteatoma.

Congenital cholesteatoma is a rare, primarily pediatric disease that presents in otherwise healthy ears. Typically, this disease is found in a well-defined sac in the middle ear, making it particularly suited for removal through transcanal endoscopic ear surgery. This article reviews the ways in which endoscopy can be applied to the surgical management of congenital cholesteatoma and provides a guide based on congenital cholesteatoma stage and extent. Outcomes have shown similar rates of residual disease in total endoscopic ear surgery compared with operative microscopy.

Suggestion of a Modified Classification for Congenital Middle Ear Cholesteatoma: Based on the Clinical Characteristics and Staging of Fifty-Seven Patients.

Objective: To explore more refined classification methods of congenital middle ear cholesteatoma (CMEC) based on two existing staging systems. Subjects and Methods: This study involved a retrospective data review of 57 patients (61 ears involved) with CMEC requiring the surgical treatment. Patients were classified into different stages according to Nelson, Potsic, and Modified Nelson staging system. Preoperative data and intraoperative findings were recorded. Results: The mean age at operation was 15 ± 15.04 years with a median of 10 years. The main clinical manifestation was hearing loss (72.13%). CMEC mass was mainly located in the posterior portion of the tympanic cavity (65.57%). No patient was classified into Potsic stage II. The erosion of incus happened in all cases. Patients with Nelson type 2 and type 3 had erosions to the structures out of middle ear, such as dura mater, lateral semicircle canal, and facial canal. Postoperative follow-up time was more than 24 months. Recurrence occurred in four patients (6.56%), all of them in Nelson type 2, who had received canal wall down mastoidectomy (three cases) and canal wall up mastoidectomy (one case). Conclusions: Nelson staging system was more suitable for advanced CMEC patients than Potsic staging system. The rare case of Potsic stage II restricted the application of Potsic staging system. Moreover, since both of two staging systems do not distinguish the type of involved ossicles, the authors recommended to subdivide Nelson type 2 into type 2a and type 2b based on the erosion of the ossicular chain, as well as subdivide Nelson type 3 into type 3a and 3b based on the erosion of structures out of middle ear, which was named as Modified Nelson staging system.

Middle ear congenital cholesteatoma: systematic review, meta-analysis and insights on its pathogenesis.

PURPOSE: Congenital cholesteatoma (CC) presents as a white pearl-like lesion behind a normal tympanic membrane (TM), without a history of otorrhea, infection, perforation or previous otologic surgery. Several recent studies provided new data improving this pathology characterization. The aim of this paper is to expand the knowledge about CC and to provide new insights on its pathogenesis. METHODS: The study consisted of two main research parts: (1) systematic review and meta-analysis; (2) medical literature review englobing anatomy, histology, embryology and congenital pathology of the ear. RESULTS: The search strategy identified a total of 636 papers. Seventy retrospective studies were included. A total of 1497 cases were studied and the mean age was 6.58 years, with a male-female ratio of 3:1, 34% were asymptomatic, 26% had hearing loss and 2% had facial dysfunction/paralysis. The overall estimate for antero-superior quadrant involvement was 0.70 [95% confident interval (CI) 0.64-0.76], in the postero-superior quadrant was 0.60 (95% CI 0.52-0.69), in the antero-inferior quadrant was 0.32 (95% CI 0.23-0.41), in the postero-inferior quadrant was 0.38 (95% CI 0.29-0.47), in the attic was 0.53 (95% CI 0.43-0.63) and in the mastoid was 0.33 (95% CI 0.26-0.41). More advanced Potsic stages were present in older patients. The most likely inclusion place seems to be between the pars flaccida and the upper quadrants of the pars tensa. CONCLUSIONS: During the last decades, a substantial improvement in CC diagnosis and management had been achieved. The presented mechanism seems to explain most of middle ear CC.

Principles of Pediatric Endoscopic Ear Surgery.

The article describes the unique benefits and challenges of transcanal (and transmastoid) endoscopic ear surgery (EES) for management of middle ear disease in children. It provides a rationale for EES in children and describes differences in anatomy between the pediatric and adult ear. The basic principles of EES, from operating room layout, choice of surgical instruments, and tips and pearls to avoid complications specific to the endoscope, are reviewed. Finally, techniques and outcomes in pediatric EES for tympanic membrane perforation, congenital cholesteatoma, and acquired cholesteatoma are summarized.

Is transcanal tympanoplasty an appropriate surgical treatment for congenital middle ear cholesteatoma with ossicular involvement?

OBJECTIVES: The aims of this study are to analyze the clinical characteristics of congenital middle ear cholesteatoma (CMC), to evaluate the treatment results according to the types of surgical approach, and to suggest the appropriate surgical treatment option in each stage. METHODS: One hundred fifteen children (≤15 years old) with surgically confirmed CMC, who underwent surgery at a tertiary hospital during 1994-2012 and were followed up more than 2 years, were enrolled in this study. CMC was classified into four stages by the staging system proposed by Potsic. Clinical characteristics of CMC were analyzed and its association with the rate of residual disease was evaluated. RESULTS: Based on the location of the lesion, posterior-origin CMCs were detected significantly later (5.5 years old, P = 0.018) and more likely to be in the Stage 3 or 4 (P < 0.001). Residual CMCs were observed in 10 out of 115 cases (8.7%) and were more frequent in the Stage 3 or 4 patients (P = 0.007). However, the rate of the residual disease was not statistically different between anterior- and posterior-origin CMCs (P = 0.101). All 58 cases of CMC in the Stage 1 or 2 were successfully removed by transcanal tympanoplasty with only one residual case (1.7%). In the Stage 3 cases, transcanal tympanoplasty was conducted in 24 out of 29 patients, and the residual disease rate was 12.5% (3 out of 24). CONCLUSIONS: The early stages of CMC were likely to be diagnosed at younger age, and the early diagnosis seemed to show better surgical outcomes with less invasive techniques. Transcanal tympanoplasty can be an effective surgical option for CMCs in the Stage 3.

Congenital cholesteatoma together with ossicular chain anomaly.

Cholesteatomas that occur under an intact tympanic membrane in the absence of prior surgical procedures or perforation are defined as congenital cholesteatomas. These entities are rarely seen, because they do not cause any major symptoms unless they touch the ossicular chain. Likewise, isolated congenital ossicular anomalies that occur independently of external ear anomalies and craniofacial dysplasia are also rarely seen. Here, we report a patient who presented with congenital cholesteatoma associated with anomalies of the ossicular chain and discuss its pathogenesis.

Congenital Intratympanic Cholesteatoma in an Adult Patient: A Case Report and Review of the Literature.

Congenital cholesteatoma within the tympanic membrane is an uncommon entity, with only few cases being documented. The aetiopathogenesis of this lesion is still unknown; however, when cholesteatoma develops in subjects without any history of previous ear inflammation, as in the case we report here, an embryologic origin is deeply suspected. An acquired origin is hypothesized in patients with a previous history of an inflammatory process of the external or middle ear because of the proliferation of the basal cell layer of the tympanic membrane epithelium. We report a rare case of congenital cholesteatoma of the tympanic membrane in an adult patient and review the literature.

Cochlear implant and congenital cholesteatoma.

BACKGROUND: The occurence of cholesteatoma and cochlear implant is rare. Secondary cholesteatomas may develop as a result of cochlear implant surgery. Primarily acquired cholesteatoma is not typically associated with congenital sensorineural hearing loss or cochlear implant in children. The occurrence of congenital cholesteatoma during cochlear implant surgery has never been reported before, partly because all patients are preoperatively submitted to imaging studies which can theoretically exclude the disease. CASE PRESENTATION: We have reported a rare case of congenital cholesteatoma, found during sequential second side cochlear implantation in a 3-year-old child. The child underwent a computed tomography (CT) scan and magnetic resonance imaging (MRI) at 12 months of age, before the first cochlear implant surgery, which excluded middle ear pathology. The mass was removed as an intact pearl, without visible or microscopic violation of the cholesteatoma capsule. All the areas where middle ear structures were touching the cholesteatoma were vaporized with a laser and the cochlear implant was inserted uneventfully. Further follow-up excluded residual disease. CONCLUSION: We believe that primary, single stage placement of a cochlear implant (CI) with simultaneous removal of the congenital cholesteatoma can be performed safely. However, to prevent recurrence, the capsule of the cholesteatoma must not be damaged and complete laser ablation of the surface, where suspicious epithelial cells could remain, is recommended. In our opinion, cholesteatoma removal and cochlear implantation should be staged if these conditions are not met, and/or the disease is at a more advanced stage. It is suspected, that the incidence of congenital cholesteatoma in pediatric CI candidates is much higher that in average pediatric population.

Incus footplate assembly: Indication and surgical outcome.

OBJECTIVES/HYPOTHESIS: To review surgical findings and hearing outcomes of incus footplate assembly (IFA) for the patients with conductive hearing loss due to missing stapes superstructure with a mobile stapes footplate. STUDY DESIGN: Retrospective case review and survey. METHODS: Pre- and postoperative audiometric data and intraoperative findings were reviewed. Postoperative air-bone gap (ABG) and ABG closure (postoperative air-conduction threshold-preoperative bone-conduction threshold) were analyzed. RESULTS: The causes of missing stapes superstructure and conductive hearing loss were congenital ossicular anomaly (n = 5), chronic otitis media (n = 2), and congenital cholesteatoma (n = 1). The prosthesis was designed to fit between the medial side of the incus and stapes footplate and had a mean length of 3.6 ± 0.5 mm. The mean pre- and postoperative ABG were 38.3 ± 4.8 and 13.3 ± 10.0 dB, respectively. The postoperative ABG at frequencies of 0.25, 0.5, 1.0, 2.0, 3.0, and 4.0 kHz were 20.0 ± 15.4, 16.9 ± 11.9, 16.3 ± 10.3, 10.6 ± 7.3, 12.9 ± 14.0, and 23.1 ± 16.2 dB, respectively. The mean ABG closure was 9.5 dB (range, -1.3∼35.8 dB). Seven cases obtained the best results (mean ABG closure ≤10 dB). In the remaining patient, the mean ABG closure was 9.5 dB until 6 months after surgery, but was 35.8 dB 1 year after surgery. CONCLUSIONS: IFA seems to be a reasonable surgical option in patients with missing the stapes superstructure, but with a mobile footplate in which the long process of incus is preserved. LEVEL OF EVIDENCE: 4 Laryngoscope, 126:2569-2573, 2016.

The difference in congenital cholesteatoma CT findings based on the type of mass.

OBJECTIVE: A retrospective assessment of differences in congenital cholesteatoma CT findings with a focus on type of cholesteatoma mass. MATERIALS AND METHODS: The medical records and CT images of 14 patients with congenital cholesteatomas in the middle ear who underwent surgery at our institution between January 2009 and July 2014 were reviewed. Cholesteatomas were classified as closed type, open type, or mixed type based on intraoperative findings. The CT findings including cholesteatoma size, location, and shape were retrospectively reviewed. RESULTS: Eight patients had closed type cholesteatomas, four had mixed type, and two had open type. The mean size of all cholesteatomas was 5.1mm. None of the cholesteatoma types indicated a tendency towards a certain location. The round shape was observed more frequently in closed type cholesteatomas than in other types (closed: 5/8; mixed: 1/4; open: 0/2). Two large closed type cholseteatomas and two mixed type cholesteatomas exhibited a constricted shape. Both of the open type cholesteatomas displayed an irregular shape. CONCLUSION: Small closed type congenital cholesteatomas were typically observed as round shaped lesions, but large closed type cholesteatomas and other type cholesteatomas tended to display shapes other than round.

Efficacy and Safety of Transcanal Endoscopic Ear Surgery for Congenital Cholesteatomas: A Preliminary Report.

OBJECTIVE: Transcanal endoscopic ear surgery (TEES) can provide greater visual access during resection of middle ear disease than the operating microscope. The purpose of this study was to determine the safety and efficacy of TEES when used for the management of congenital cholesteatoma (CC) in children. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Twelve children with CC confined to the middle ear underwent TEES. Seven children were Potsic stage I, four were stage II, and one was stage III. The mean follow-up period was 23.1 months. INTERVENTION: Transcanal middle ear surgery using endoscopes. MAIN OUTCOME MEASURES: Incidence of surgical complications and cholesteatoma recurrence. RESULTS: Twelve patients underwent TEES and four patients underwent microscopic surgery during the same period. No surgical complications occurred. Postoperative audiograms were available for 7 of 12 patients who had puretone averages ranging from 3.3 to 23.9 dB HL (mean, 12.7 dB HL). One patient with a stage III CC was found to have residual disease during a second-look procedure, whose follow-up period was only 3 months. Other patients underwent one-stage operations and have developed no cholesteatoma recurrence. CONCLUSION: Although the follow-up period and number of patients were limited, early-stage CC can be safely removed using TEES.