Congenital cholesteatomas are defined as a collection of epithelium in the absence of prior surgery or pathologic retraction. They are most commonly found in the middle ear and are thought to arise from a residual epithelial rest present since birth; however, a small number of cases present with disease isolated to the mastoid bone. One such case and a review of prior reports are presented. A 29-year-old male with a 2-year history of headaches and no otologic surgery was found to have a destructive mass centered in the right mastoid bone, invading the jugular foramen and posterior fossa without middle ear disease. He underwent a mastoidectomy with complete resection of the cholesteatoma. A literature review identified 21 prior cases of isolated mastoid congenital cholesteatoma. Congenital cholesteatoma should be considered in the differential diagnosis when patients present with postauricular pain or headaches. Mastoidectomy is considered the treatment of choice.

Cholesteatoma is a mass of keratin debris in the middle ear cavity or mastoid. Congenital cholesteatomas may remain asymptomatic for many years and present during adulthood or may even be an incidental finding. We hereby describe a case of 41-year male with an isolated mastoid congenital cholesteatoma with sigmoid plate erosion and posterior cranial dura exposure extending into digastric muscle. Tympanomastoid exploration with sigmoid sinus resurfacing with hydroxyapatite granules was done. However, the case got complicated by extrusion of granules which was then successfully managed. This case report throws light on diagnosis and surgical management of isolated mastoid cholesteatoma. From this misadventure, we learnt that a successful mastoid cavity obliteration (using hydroxyapatite granules) in a canal wall up mastoidectomy can be achieved by providing hermetic seal.

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. 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. Adult-onset congenital cholesteatoma in the hypotympanum. Combined endoscopic and microscopic removal of the cholesteatoma. Physical examination revealed slight improvement in right-sided peripheral facial palsy. 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.

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. 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. 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. 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.

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.