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 KEYWORDS: Congenital intratympanic cholesteatoma, intratympanic cholesteatoma, congenital cholesteatoma of the tympanic membrane, cholesteatoma of the tympanic membrane
Barbara Pedruzzi, Marta Mion, Francesco ComacchioDepartment of Otolaryngology, Azienda Ospedaliera di Padova, Padova, Italy
Case ReportIn 1936, Teed [3] cited the first five cases of ITMC to support the theory of a congenital origin of cholesteatomas. From the English literature, he cited the first case reported by Hinton in 1863 [4] and one other case.We identified a list of potential citations for inclusion in this review, following which the titles and abstracts on this list were screened by two independent reviewers.All the retrieved full-texts were included in the review by consensus of all the authors ( Figure 5).As a quality assessment strategy, the included studies were methodologically appraised according to the National Institute for Health and Clinical Excellence's levels of evidence (Table 1): all the studies could be categorized as evidence level 3.We analyzed the data from these cases, including our own case, to study their demographic details, and clinical features and management, for a total of 42 patients and 20 articles, including our own research (Table 2). Table 2 summarizes the data found in the English literature [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24] .
120J Int Adv Otol 2016; 12(1): 119-24 The age range was 5 months to 57 years, with 27 (64.3%) cases involving patients less than 4 years of age, out of which seven (16.7%) were 1-year old or less. There was a history of one or more episodes of otitis media (n=14) when ITMC was noticed on otoscopy. The lesion was first noted by pediatricians (n=14), by general practitioners (n=4), or by otolaryngologists (n=16). In three cases, the analyses were conducted post-mortem during autoptic exams [9] . This highlights the need for routine otoscopy by primary care physicians to detect abnormalities and make an early referral to otolaryngologists. ITMC should always be considered in the differential diagnosis of white lesions in TM. Otomicroscopy can help differentiate ITMC from tympanosclerosis. Only in one case had the lesion occupied the whole TM, while the umbo was involved in nine patients; this region is the most depressed part of TM, where the manubrium of the malleus is fir...