Congenital Cholesteatoma: Theories, Facts, and 53 Patients

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Incidence

The true incidence of CC is difficult to determine. Initially thought to be rare, the incidence seems to be on the rise [4]. The incidence of CC of the middle ear is estimated to be between 1% to 5% of all cholesteatomas in most published series [4], [5], [6]. Earlier treatment of otitis media and allergies is reducing the number of acquired cholesteatomas, and consequently increasing the percentage of CC. There are also many reasons that the number of reported cases of CC has increased over

Presentation and growth

The clinical presentation of any ear mass depends on its size, location, and histology. Earlier diagnosis decreases the overall size of the CC and reduces the likelihood of ossicular erosion. The most common presentation of a CC is a white retrotympanic middle ear mass [5], although they may be discovered incidentally during the time of routine otologic evaluation or during a myringotomy. Improved American health care and preventive medicine for children has lead to a substantially earlier

Histology

CC or epidermoid cyst is a stratified squamous epithelial lined cyst filled with keratin debris. Like acquired cholesteatoma, the cyst forms as the result of progressive desquamation of the epithelium. The congenital form of cholesteatoma is indistinguishable by histology from the acquired form; therefore, it is the clinical picture that is important in distinguishing the two entities.

Imaging

Pediatric patients with conductive hearing loss and a normal otomicroscopic examination require radiologic evaluation to evaluate for the presence of middle ear anomalies like CC. Because plain radiographs are nonspecific, high-resolution CT and MRI are the most commonly used imaging modalities [11]. CT is generally used as the first imaging modality because of its superior bony definition. CT cannot only confirm the location of a middle ear mass, but can accurately determine the size of the

Staging

CC of the middle ear is often staged by its location and relationship with surrounding structures. Derlacki and Clemis [13] are credited with the first classification system for CC. They classified the lesions into petrous pyramid, mastoid, or tympanic. Recently, two staging systems for CC of the middle ear have been suggested. The first, by Potsic [14], suggested the following stages:

  • Stage 1: Single quadrant with no ossicular or mastoid involvement

  • Stage 2: Multiple quadrants with no ossicular

Surgery

Surgical management of the CC requires complete removal of the matrix or exteriorization to prevent recurrence. The goal of surgery is complete removal of disease with optimal hearing outcomes. For complete removal, intraoperative dissection must be complete around the matrix, often mandating a mastoidectomy for better visualization.

As expected, the majority of patients with isolated anterior mesotympanum lesions can be adequately approached through a standard tympanoplasty. Posterior lesions

Pathophysiology

The accepted cause of CC remains controversial. The competing theories of pathogenesis fall into four categories: implantation, invagination or invasion, metaplasia, and epithelial rest formation.

Chart review

Between March 1971 and December 2003, over 3000 chronic ear surgeries were performed at our institution. A computerized otologic database was used to identify 53 patients who had a history of CC. Cholesteatoma was considered to be congenital if there was no history of otologic surgery, otorrhea, or perforation, and no tympanic membrane abnormality on examination.

Charts of these patients were reviewed, and patients were classified according to the following data: age of patient, location and

Discussion

Although considerable controversy exists over the existence of CC, there exists a set of pediatric patients with normal eustachian tube function and normal tympanic membranes with a retrotympanic cholesteatoma. Congenital and acquired cholesteatomas share many similarities, but key differences in the pathophysiology and location of these lesions mandate separate treatment protocols.

Preoperative workup includes a thorough examination and audiogram. Because these lesions develop behind a normal

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