Congenital Cholesteatomata With Other Anomalies Didier L. Peron, MD, Harold F. Schuknecht, MD
Congenital (primary) cholesteatomata may arise in the petrous apex, mastoid, middle ear, or external auditory canal. Histological studies of the temporal bones of a 20-year-old man with bilateral combined deafness show bilateral congenital cholesteatomata of the middle ears associated with salivary choristomata and other anomalies of the middle and inner ears.
first historical reference to substances found in and around the base of the skull must be credited to DuVerney1 who, in 1683, termed it steatome. In 1829, Cruveilhier2 referred to similar lesions as tumeur perlée (pearly tumor). In 1838, Johannes Müller3 coined the term "cholesteatoma," which he derived from chole (bile), steator (fat), and orna (neoformation or tumor). The term primitive choles¬ teatoma has also been used to describe an epithelial formation of embryonic
Thecholesteatomatous
origin (Virchow, 18554). Cushing (1922),5 and Critchley and Ferguson (1928),e when discussing these lesions located in the area of the brain and spinal cord, named them "epidermoids." To this date, the terminology remains varied, with the following terms in use: primary cho-
Accepted for publication
Feb 21, 1975. From the Massachusetts Eye & Ear Infirmary and Harvard Medical School, Boston. Dr. Peron is currently at Notre Dame Hospital and the University of Montreal, Faculty of Medicine, Montreal. Reprint requests to the Massachusetts Eye & Ear Infirmary, 243 Charles St, Boston, MA 02114
(Dr. Schuknecht).
lesteatoma, real cholesteatoma, kera¬ tosis, primary keratoma, primary epi¬ dermoid, true epidermoid, inclusion cyst, epidermoid cyst, dermoid cyst, epithelial cyst, and pseudomucocele.
Because all of these lesions take origin from displaced epithelial rests that are present at birth, we suggest that the disorder be known by a single term, "congenital cholesteatoma." Variations in the cystological charac¬ teristics can then be designated by modifying terminology such as epi¬ dermoid type or dermoid type. This report will consist first of a case report of an individual with bilat¬ eral congenital cholesteatomata of the middle ears in association with sali¬ vary choristomata and other anoma¬ lies of the middle and inner ears. Second, we will comment on the pathological conditions and pathogen¬ esis of congenital cholesteatomata as based on our personal observations and on a review of the literature. REPORT OF A CASE A 20-year-old man was born of a mentally retarded father and mother,
whose ages at the time of his birth were 38 and 34 years respectively. Both parents were known to have hearing losses of unknown cause and severity. The child was the eighth of ten pregnancies. One male and one female sibling are living but their histories are unknown. The patient resided at the Fernald State School from the age of 4 because of mental retardation. His condi¬ tion was diagnosed as encephalopathy associated with spastic diplegia assumed to be caused by anoxia at birth. His teachers and custodians considered his hearing to be normal in childhood. At the age of 6, his intelligence quotient was tested to be 28 and later in life to be 44. At ages 12 and 15
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years, he had bouts of glomerulonephritis. At the age of 19 years, an audiometrie test (Fig 1) showed bilateral combined conduc¬ tive and sensorineural hearing loss and he
fitted with an air-conduction hearing aid (side unknown). There is no record of an otoscopie examination. He died seven months later at the age of 20 years of renal failure. Both temporal bones were re¬ moved. The specimens were prepared by the standard procedure of fixation, décal¬ cification, embedment in celloidin, hori¬ zontal sectioning at 20µ, staining with hematoxylin-eosin, and mounting of every tenth section on glass slides. was
Histological Findings Right Ear.—The temporal bone is in a good state of histological preservation and preparation. The superior part of the middle ear is occupied by a cystic structure
that is in free communication with the middle ear space inferiorly. The cyst over¬ laps the superior edge of the orifice of the eustachian tube but does not obstruct it. The posterior part of the cyst is lined with keratinizing squamous epithelium from which keratin debris is exfoliating into the cystic space. Anteriorly, the cyst is lined with tall ciliated columnar epithelium on a thick fibrous tissue membrane within which are collections of serous and mucinous glands and an adjacent cluster of sebaceous glands. A mass of salivary gland tissue borders the cyst at the lateral wall of the protympanum (Fig 2). The pars flaccida and pars tensa of the tympanic membrane are intact and the pars propria (fibrous layer) appears not to have been altered, indicating that no perfo¬ ration had taken place during life. The mastoid, including the antrum, is totally nonpneumatized. The area of the central mastoid tract consists of a small central fibrous core surrounded by bone marrow. The petrous apex contains normal-appear¬ ing hemopoietic tissue. The head of the malleus is surrounded by a loose fibrillar
Ear
PB Max
tissue
presumed
to be unresolved mesenThere is anterior bowing of the neck and the lateral process of the malleus. The body of the incus consists of a small remnant of bone articulating with the head of the malleus and a thin bony process making contact with the head of the stapes. The annular ligament is underde¬ veloped anteriorly and the foot-plate is ankylosed posteriorly (Fig 3). There is excessive bowing of the anterior crus. A small tensor tympani muscle is located superior and lateral to the eustachian tube and its tendon is attached to the anterior surface of the neck of the malleus. The cochleariform process is missing. The tympanic portion of the fallopian canal is dehiscent. The eustachian tube, including its tympanic orifice, is widely patent. The cochlea has the normal 2xk turns but measures only 23 mm in length (normal: 32 mm). The density of hair cells and cochlear neurons appears to be normal in this short¬ ened cochlear duct. The stria vascularis is normal. The utricule and saccule appear normal. The endolymphatic sac is wide and
chyme.
]
[
3-E-
1,000 2,000 4,000 8,000 Frequency ¡n Hz Boner—-t-Right Conduction O-O-Right _, Air Air conduction Conduction}—-i Left 250
500
x_x.L^t Fig 1 .—Audiogram at the age of 19 years „
(nine months before death) showing a bilateral symmetrical sensorineural and conductive hearing loss.
Fig 2.—Right ear: Horizontal section through superior part of temporal bone showing dehiscence of facial nerve, salivary choristoma, and nonpneumatized mastoid.
bulbous. The nonampullated end of the superior semicircular canal is narrowed. The ampulla and adjacent two thirds of the lateral canal as well as three fourths of the posterior canal are missing (Fig 4). Left Ear.—This ear is also in a good state of preservation and preparation. The superior part of the middle ear is occupied by a cystic structure that partly encom¬ passes the incus and has caused erosion of the medial surface of the head of the malleus. It communicates widely with the middle ear space inferiorly. Part of the lateral and posterior wall of the cystic space is lined with keratinizing squamous epithelium from which keratin debris is exfoliating into the cystic space. The anterior wall of the cystic space is lined with thick pseudostratified columnar ciliated epithelium on a fibrous tissue membrane within which are scattered serous and mucinous glands and an adja¬ cent cluster of sebaceous glands. There is a large mass of salivary tissue abutting the cystic space anteriorly and laterally in the protympanic area (Fig 5 and 6).
congenital cholesteatoma (cyst) in epitympanum,
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The mastoid, including the antrum, totally nonpneumatized, consisting of
small central
is a
core of fibrous tissue and bone marrow. Except for several small artifactual tears, the tym¬ panic membrane, including the pars pro¬ pria, is normal. The short process and body of the incus are exceptionally large and the body is firmly ankylosed to the medial wall of the middle ear. The long process of the incus is missing. The head and crura of the stapes are malformed and located about 4 mm anterior to the oval window, the posterior crus is ankylosed to the promon¬ tory and the foot-plate is missing. The oval window is bridged by fibrous membrane. The head of the malleus is surrounded by connective tissue. The tensor tympani muscle is located superior and lateral to the protympanum and the tendon attaches to the anterior surface of the neck of the malleus. The cochleariform process is miss¬ ing. The stapedius muscle protrudes into the middle ear and its tendon passes forward to make contact with an underde¬ veloped head of the stapes (Fig 7). The
surrounding
tympanic portion of the fallopian canal is partly dehiscent. The facial nerve is surrounded by large veins. The tympanic orifice of the eustachian tube is widely patent. The inner ear anomalies are almost
identical to those of the right ear. The cochlea measures 25 mm in length but otherwise appears normal. The endolym¬ phatic sac is wide and bulbous, the superior canal is narrowed and parts of the lateral and posterior canals are missing.
CLINICAL
AND PATHOLOGICAL FEATURES
Congenital cholesteatomata of the temporal bone are a well-recognized entity but their incidence as a cause of serious
ear
disease is not known. Of
particular interest is the pathogenesis
of cholesteatoma of the middle ear occurring in the presence of an intact tympanic membrane. In 1922, Cushing,5 when referring to cholesteato¬ mata, stated that many such cases might be "true epidermoids respon-
sible for the otitis media, rather than the reverse." It seems probable that some cases of infected middle ear cholesteatomata have their origin as epithelial rests rather than epidermal
ingrowths through postinfection per¬ forations of tympanic membrane, or retraction pockets from Schrapnell membrane. After a cholesteatoma becomes infected it is often impos¬ sible to determine its pathogenesis. Congenital cholesteatoma of the temporal bone may occur in five sites: (1) the petrous apex; (2) the mastoid; (3) the middle ear; (4) both middle ear and mastoid; and (5) the external auditory canal.
Congenital Cholesteatoma Petrous
of the
Apex
Fifteen publications721 were re¬ viewed in which there were 40 case histories of patients with congenital cholesteatomata of the petrous apex.
Fig 3.—Right ear: There is osseous fixation of posterior margin of foot-plate and stapediovestibular articulation is underdeveloped anteriorly. Anterior crus is bowed and capitellum is underdeveloped.
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Although detailed information re¬ garding symptoms and findings was sometimes omitted, certain symptoms were reported to occur more frequent¬ ly than others. The following data
Fig 4.—Developmental anomalies that occurred in right inner ear. Black area indicates labyrinth and shaded area shows outline of a normal labyrinth. Cochlear duct is shortened (23 mm, instead of the normal 32 mm), part of the superior canal is narrowed and large parts of the posterior and lateral canals are missing. Endolymphatic duct is shortened and endolymphatic sac is round, bulbous, and located entirely within the temporal bone. Left ear has almost identical anomalies.
derive from a total of 36 cases. The mean age at the time the condi¬ tion was diagnosed was 39. In 28 of 36 patients (78%) the first symptom was unilateral hearing loss. It was often a progressive sensorineural hearing loss associated with poor speech discrimi¬ nation. Thirty-four of the 36 patients (94%) exhibited hearing loss at the time of the original diagnosis. In eight patients, the hearing loss was present for at least ten years before any other symptom occurred. Facial nerve involvement was the first symptom in seven (20%), but was present at the time of the diagnosis in 30 of 36 patients (83%). The symptoms consisted of either gradually progres-
Fig 5.—Left ear: This horizontal section at level of oval window shows a membrane bridging the oval window, staped underdeveloped and fixed to the promontory, a large congenital cholesteatoma (cyst) occupying the middle ear and surrounding an enlarged incus, salivary choristoma, lateral location of tensor tympani, and anterior bowing of manubrium.
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sive facial weakness or hemifacial spasm. Other symptoms at the time of diagnosis were: vertigo in 11 (31%), head pain in six (17%), fifth cranial nerve involvement in four (11%), and sixth cranial nerve paralysis in two (6%). Ninth cranial nerve paralysis, cerebellar dysfunction, and menin¬ gitis were present in one case each. There was decreased or absent vestib¬ ular response in 27 of 29 cases tested. The typical radiological finding was a radiolucent defect in the petrous apex. Posterior fossa myelography typically showed the large lesions to have a distinctive scalloped surface contour with occasional extension into middle and posterior cranial fossae. The total protein values of cerebro¬ spinal fluid was found to be normal in 13 of 14 patients examined, in contra¬ distinction to the elevated values usually found in the presence of meningiomata and large vestibular schwannomata.8·16·2'·22 The combined statistics on the incidence of tumor growths in the cerebellopontine angle from three studies (Hitselberger and Gardner,22 Revilla,23 and Obrador,24 re¬ veal that of a total of 590 tumors, 28 (4.7%) were cholesteatomata, 30 (5%) were gliomata, 35 (6%) were menin¬ giomata, and 480 (91%) were vestibu¬ lar schwannomata.
Congenital Cholesteatoma
of the
Mastoid
The literature reveals a total of 15 in 12 publications2536 in which the authors suspected a congenital embryologie pathogenesis for choles¬ teatoma of the mastoid. Thirteen cases have been used for the following data. The mean age at the time the condi¬ tion was diagnosed was 23 years. Hearing loss with associated infec¬ tion, ossicular destruction, or perfora¬ tion of the tympanic membrane was the primary symptom in seven pa¬ tients. Swelling of the postauricular area or of the posterior wall of the external auditory canal was present in eight patients, postauricular pain in five patients, and facial paralysis in two cases
patients. Vertigo
was
a
prominent
symptom in two patients and both
found to have fistulae of the lateral semicircular canals on surgical exploration. In these patients, the presumption of an embryonic rather than a postinfection pathogenesis was based on the lack of clinical history or findings of the latter.
were
Congenital Cholesteatoma
of the
Middle Ear
The literature reveals 12 publica¬ tions10'3·23·37-45 describing 25 cases of congenital cholesteatomata localized in the middle ears. The average age at the time of diagnosis was 11 years. Nine cases were discovered inciden¬ tally during routine otologie examina¬ tions of school children. Hearing loss was the first symptom in 14 (56%) and was present at the time of diagnosis in 20 (80%). Other initial symptoms were otorrhea, otalgia, and loss of taste in two each. Partial facial paral¬ ysis was noted in one patient in which surgical exploration revealed a dehiscence of the fallopian canal. Otoscopy revealed the classical "whitish mass" behind an intact tympanic membrane in 16 patients. The mass was described as having a pinkish hue in five, one of which was diagnosed originally as a glomus jugulare tumor.42 The tym¬ panic membrane was found to be perforated with an associated otitis media in two patients. Valvassori (cited by Derlacki et al4") observed that acquired cholesteatoma of the epitympanum typically causes erosion of the inferior margin of the lateral epitympanic wall whereas congenital cholesteatoma causes erosion more superiorly, leaving the inferior mar¬ gin intact and giving the scutum a scooped-out appearance. Congenital cholesteatomata of the middle ear usually arise in the epitym¬ panum and extend into the middle ear and mastoid causing extensive erosion of the ossicles. The long process of the incus was destroyed in two thirds and the crura in one half of the reported cases.
Congenital Cholesteatoma Involving Both the Middle Ear and Mastoid
In 11 cases reported in nine publica¬ tions'·9· '3.29.37.44.47 tne cholesteatomata
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involved both the middle ears and mastoids and the initial site of involvement could not be ascertained. In this group with extensive choles¬ teatoma, the incidence of bony ero¬ sions and complications was very high. Facial nerve weakness or palsies were present in six and fistulae of the bony labyrinths in two patients. Again, the
congenital embryonic cause was un¬ certain and usually based on the history of insidious development in the absence of preceding known otitis media.
Congenital Cholesteatoma of the External Auditory Canal Cholesteatoma may occur in asso¬ ciation with atresia of the external auditory canal. Ombrédanne and Porte (1962)48 found ten such choles¬ teatomata in a total of 330 patients with major aural aplasias. We have found 20 cases reported in the litera¬ ture,4964 the first by Lüders in 1912.49 In 11 patients, the cholesteatomata were found to exist medial to a bony atresia plate in eight and medial to an atretic cartilaginous canal in three. In many of these patients, there was erosion of bone of the external auditory canal and invasion and destruction of the middle ear struc¬ tures. The diagnosis was usually made by the finding of a tender swollen area in the presence of an atretic canal (Hoenk et al).50 COMMENTS ON PATHOGENESIS AND PATHOLOGICAL FINDINGS
Considering the complicated em¬ bryonic development of the ear struc¬ tures, it is not surprising that nests of ectodermal cells might be trapped within the temporal bone as congeni¬ tal defects and, because of the proliferative nature of the tissue, present later in life as expanding tumor growths. It is now known that these
lesions may occur in the petrous apex, mastoid, middle ear, and external auditory canal. The histological struc¬ ture of the walls of these cystic struc¬ tures vary from simple keratonizing squamous (pavement) epithelium, known as epidermoid cysts, to thicker walled cysts containing a dermal
Fig 6.—Left ear: Wall of congenital cholesteatoma. It is lined partly by keratonizing squamous epithelium and partly by pseudostratified columnar ciliated epithelium beneath which is a clump of sebaceous glands. Adjacent salivary choristoma appears to drain into parotid
ductal system.
layer,
sometimes with simple glands and hair follicles and termed dermoid cysts. The contents of the cysts are determined by the histological struc¬ tures located in their walls and may consist of firm masses of whitish keratin debris, sebaceous (waxy) ma¬ terial, or more fluid content with cholesterol crystals or keratin. Our patient is an example of bilateral dermoid cysts (squamous epithelium and sebaceous glands) of the middle ears and is atypical to the extent that the lesions are bilateral and associated with salivary gland choristomata and anomalies of the ossicles, middle ear muscles, and inner ears. An interesting feature of the der¬ moide in the ears of this individual is the wide communication with the eustachian tubes. The squamous epi¬ thelium that lines the posterior four fifths of the cystic spaces is in direct continuity with pseudostratified cili-
ated epithelium of the protympanum. During histological preparation of the specimens, a soft whitish material was seen to occupy both the cystic spaces and protympanic spaces. This mate¬ rial separated and fell out of the tissue sections during preparation. This, then, accounts for the apparent empty appearance of the cystic spaces in the tissue sections. It is possible that during life, some of the cyst content may have been discharging from the eustachian tube that would have limited the growth of the cysts. The presence of salivary gland tissue in the lateral walls of the protympani is an unusual anomaly. All five cases reported previously of sali¬ vary gland choristomata have been unilateral.6569 Four were manifested by prolonged conductive hearing loss. Abnormalities of the ossicles, abnor¬ mal course of the facial nerve, and large anomalous middle ear vessels
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were seen
in two each. One showed
a
missing oval window and one a missing tensor tympani muscle. A popular debate has raged for years concerning the cause of choles¬ teatomata of the epitympanic area.
One group of authors favors the concept of epithelial migration from the region of Shrapnell membrane either as proliferation of the deeper layers of epidermis or as a retraction of Shrapnell membrane.7079 Another group supports the idea that most cholesteatomata arising in this area are the result of the epithelial rests from the first ectodermal branchial pouch.45·'0·80-85 A third group fa¬ vors the idea of metaplasia of the cuboidal epithelium of the middle ear into a squamous stratified epithe¬ lium.86"88 It seems quite obvious that choles¬ teatoma, limited to the petrous spex, the mastoid, or to the external
Fig 7.—Left ear: Horizontal section shows congenital cholesteatoma of middle ear, stapedius muscle extending into the middle ear and large veins surrounding the facial nerve. auditory canal, is of congenital em¬ infection or a history of previous toid or translabyrinthine approach89 bryonic origin. When cholesteatoma otorrhea does not necessarily rule out and rarely via a transsphenoid ap¬ a congenital origin as it seems prob¬ occurs in the middle ear alone or in proach, whereas lesions of the mastoid able that these lesions may become and middle ear require tympanomasassociation with the mastoid, it is not always possible to determine whether infected secondarily, particularly toidectomy surgery. Lesions of the external auditory canal require canal when they communicate directly with the lesion arose as an invasive process the eustachian tube. from the external auditory canal or as plasty with possible additional sur¬ It is not the purpose of this commu¬ a congenital embryonic anomaly. gery of the middle ear and mastoid nication to present a detailed descrip¬ When the lesion occurs without a depending on the extent of the in the tion of involvement. our with of experiences pres¬ surgery history previous otitis, for primary cholesteatomata. Suffice ence of an intact membrane and in the This investigation was supported by National it to say that primary cholesteatomata presence of associated anomalies, a Institutes of Health Research grant No. NSexteriis of the an petrous apex require primary congenital pathogenesis 05881 from the National Institute of Neurological highly probable. The presence of orization procedure via either a mas- Disease and Stroke. References 1. DuVerney M: Trait\l=e'\de L'organe de L'o\l=u"\ie, contenant structure, les ufages et les maladies de toutes les parties de l'oreille. Paris, E Michallet, 1683. 2. Cruveilhier J: Anatomie pathologique du corps humain. Paris, JB Bailliere, 1829. 3. M\l=u"\llerJ: Uber den feineren Bau und die Formen der kraukhaften Geschwulste. Berlin, G
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Cushing
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et al: Trois
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Congenital
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Atresie des menschlichen Ohres. Mschr Ohrenheilkund 55:195-230, 1921. 52. Thompson A: Cited by Goufas.57 53. de la Bernardie CB: Imperforation du conduit auditif externe, cholesteatome primitif, evidement p\l=e'\tro-mastoidienspontan\l=e'\consid\l=e'\rations \l=e'\tiologiques.Ann Otolaryngol Paris 50:952\x=req-\
956, 1931.
54. David I: Cholest\l=e'\atomeprimitif du temporal avec malformation cong\l=e'\nitaledu pavillon de l'oreille et absence du conduit auditif externe. Rev Laryngol Otol Rhinol (Bord) 55:511-523, 1934. 55. F\l=e'\k\l=e`\teA: Les cholest\l=e'\atomesatypiques et primaires de l'oreille, th\l=e`\se.Paris 681, 1939. 56. Gignoux M: Imperforation du conduit auditif externe avec cholest\l=e'\atome.J Fr Otorhinolaryngol 2(8):768-770, 1953. 57. Goufas G: Malformation cong\l=e'\nitaleprobable des oreilles externe et moyenne gauches, avec ost\l=e'\itechronique du tympanal, r\l=e'\chauff\l=e'\e et ext\l=e'\rioris\l=e'\e,et coexistence cholest\l=e'\atomateuse primitive, enkyst\l=e'\e,de la cavit\l=e'\tympanale. Ann Otolaryngol (Paris) 12:1362-1368, 1932. 58. Gumperz R: Ein Fall von Mikrotie, angeborener Geh\l=o"\rgangsatresiemit Cholesteatoma verum. Z Hals Nasen Ohrenheilkund (Berlin) 2:387-389, 1922. 59. Kluyskens P, Willemot J: Cholest\l=e'\atome primitif et aplasie cong\l=e'\nitalede l'oreille. Rev Laryngol Otol Rhinol (Bord) 85:951-960, 1964. 60. Niescher W: Ohrmissbildung und Cholesteatom (Kasuistische Mitteilung). HNO 16:109\x=req-\ 110, 1968. 61. P\l=r%v\\l=e'\cecht\l=e%v\lA: A contribution to the development of congenital atresia of an ear with cholesteatoma. Acta Otolaryngol 14:123-126, 1930. 62. Ramadier B: Cited by Goufas.57 63. Winther P: Aplasie cong\l=e'\nitalede l'oreille: M\l=e'\ningites\l=e'\reusede la fosse post\l=e'\rieuredue \l=a`\ un volumineux cholest\l=e'\atomedu rocher. Sem Hop Paris 28(90):3647, 1952. 64. Wolfram G: Cholesteatom bei angeborener geh\l=o"\rgangatresieund Mikrotie. Mschr Ohrenheilkund 88:171-175, 1954.
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65. Bruner RC: Salivary gland choristoma of the middle ear: A case report. Arch Otolaryngol 91:303, 1970. 66. Caplinger CB, Hora JF: Middle ear choristoma with absent oval window: A report of one case. Arch Otolaryngol 85:365-366, 1967. 67. Noguera JT, Haase FR: Congenital ossicular defects with a normal auditory canal: Its surgical treatment. Eye Ear Nose Throat Mon 43:37-39, 1964. 68. Steffen TN, House WF: Salivary gland choristoma of the middle ear. Arch Otolaryngol 76:74-75, 1962. 69. Taylor GD, Martin HF: Salivary gland tissue in the middle ear: A rare tumor. Arch Otolaryngol 73:651-653, 1961. 70. Habermann J: Zur Entstehung des Cholesteatoms des Mittelhors (Cysten in der Schleimhaut der Paukenh\l=o"\hle,Atrophie der Nerven in der Schnecke). Arch Ohren Nasen Kehlkheilkund (Berlin) 27:42-50, 1888. 71. Bezold F: Textbook of Otology. Chicago, Colgrove EH, 1908. 72. Nager FR: The cholesteatoma of the middle ear: Its etiology, pathogenesis, diagnosis and therapy. Ann Otol Rhinol Laryngol 34:1249\x=req-\ 1258, 1925. 73. Politzer A: The desquamative processes and the formation of cholesteatoma, in A Textbook of the Diseases of the Ear, ed 6. London, Tindal and Cox, 1926. 74. Wittmaack K: Die entz\l=u"\ndlichenErkrankungsprozeese des Geh\l=o"\rorgans,in Henke F, Lubarsch 0 (eds): Handbuch der speziellen pathologischen Anatomie und Histologie. Berlin, Springer-Verlag, 1926. 75. Wittmaack K: Wie entsteht ein genuines Cholesteatom? Arch Ohren Nasen Kehlheilkund (Berlin) 137:306-332, 1933. 76. Day KM: Primary pseudocholesteatoma of the ear. Arch Otolaryngol 34:1144-1151, 1941. 77. Ojala L, Saxen A: Pathogenesis of middle ear cholesteatoma arising from Shrapnell's membrane (attic cholesteatoma). Acta Otolaryngol [Suppl] (Stockh) 100:33-54, 1952. 78. R\l=u"\ediL: Cholesteatosis of the Attic. J Laryngol Otol 72:593-609, 1958. 79. McGuckin F: Concerning the pathogenesis of destructive ear disease. J Laryngol Otol 75:949\x=req-\ 961, 1961. 80. K\l=o"\rner:Cited by Portmann G, in Portmann G, Portmann M, and Claverie G: The
Surgery of Deafness. Valetta-Malta, Progress Company Ltd, 1964.
81. Mikulicz J: Beitrag zur Genese der Dermoide am Kopfe. Wien Med Wochenschr 26:953-956, 1876. 82. McKenzie D: Pathogeny of aural cholesteatoma. J Laryngol Otol 46:163-189, 1931. 83. Teed RW: Cholesteatoma verum tympani: Its relationship to the first epibranchial placode. Arch Otolaryngol 24:455-474, 1936. 84. Diamant M: Cholesteatoma and chronic otitis: Etiologic problems. Arch Otolaryngol 47:581-589, 1948. 85. Diamant M: Cholesteatoma, an analysis of fact and figment. Acta Genet Med Gemellol (Roma) 4:151-164, 1953. 86. Wendt H: Desquamative Entz\l=u"\ndungdes Mittelohres ("Cholesteatom des Felsenbeins" der Autoren). Arch Ohren Nasen Kehlkheilkund (Berlin) 9:122-124, 1874. 87. Tumarkin A: Contribution to study of middle ear suppuration with special reference to pathogeny and treatment of cholesteatoma. J Laryngol Otol 53:737-771, 1938. 88. Tumarkin A: Attic cholesteatosis. J Laryngol Otol 72:610-619, 1958. 89. Gacek RR: Diagnosis and management of primary tumors of the petrous apex. Ann Otol Rhinol Laryngol, vol 84, suppl 18, 1975.
Congenital (primary) cholesteatomata may arise in the petrous apex, mastoid, middle ear, or external auditory canal. Histological studies of the temporal bones of a 20-year-old man with bilateral combined deafness show bilateral congenital cholesteatomata of the middle ears associated with salivary choristomata and other anomalies of the middle and inner ears.
first historical reference to substances found in and around the base of the skull must be credited to DuVerney1 who, in 1683, termed it steatome. In 1829, Cruveilhier2 referred to similar lesions as tumeur perlée (pearly tumor). In 1838, Johannes Müller3 coined the term "cholesteatoma," which he derived from chole (bile), steator (fat), and orna (neoformation or tumor). The term primitive choles¬ teatoma has also been used to describe an epithelial formation of embryonic
Thecholesteatomatous
origin (Virchow, 18554). Cushing (1922),5 and Critchley and Ferguson (1928),e when discussing these lesions located in the area of the brain and spinal cord, named them "epidermoids." To this date, the terminology remains varied, with the following terms in use: primary cho-
Accepted for publication
Feb 21, 1975. From the Massachusetts Eye & Ear Infirmary and Harvard Medical School, Boston. Dr. Peron is currently at Notre Dame Hospital and the University of Montreal, Faculty of Medicine, Montreal. Reprint requests to the Massachusetts Eye & Ear Infirmary, 243 Charles St, Boston, MA 02114
(Dr. Schuknecht).
lesteatoma, real cholesteatoma, kera¬ tosis, primary keratoma, primary epi¬ dermoid, true epidermoid, inclusion cyst, epidermoid cyst, dermoid cyst, epithelial cyst, and pseudomucocele.
Because all of these lesions take origin from displaced epithelial rests that are present at birth, we suggest that the disorder be known by a single term, "congenital cholesteatoma." Variations in the cystological charac¬ teristics can then be designated by modifying terminology such as epi¬ dermoid type or dermoid type. This report will consist first of a case report of an individual with bilat¬ eral congenital cholesteatomata of the middle ears in association with sali¬ vary choristomata and other anoma¬ lies of the middle and inner ears. Second, we will comment on the pathological conditions and pathogen¬ esis of congenital cholesteatomata as based on our personal observations and on a review of the literature. REPORT OF A CASE A 20-year-old man was born of a mentally retarded father and mother,
whose ages at the time of his birth were 38 and 34 years respectively. Both parents were known to have hearing losses of unknown cause and severity. The child was the eighth of ten pregnancies. One male and one female sibling are living but their histories are unknown. The patient resided at the Fernald State School from the age of 4 because of mental retardation. His condi¬ tion was diagnosed as encephalopathy associated with spastic diplegia assumed to be caused by anoxia at birth. His teachers and custodians considered his hearing to be normal in childhood. At the age of 6, his intelligence quotient was tested to be 28 and later in life to be 44. At ages 12 and 15
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years, he had bouts of glomerulonephritis. At the age of 19 years, an audiometrie test (Fig 1) showed bilateral combined conduc¬ tive and sensorineural hearing loss and he
fitted with an air-conduction hearing aid (side unknown). There is no record of an otoscopie examination. He died seven months later at the age of 20 years of renal failure. Both temporal bones were re¬ moved. The specimens were prepared by the standard procedure of fixation, décal¬ cification, embedment in celloidin, hori¬ zontal sectioning at 20µ, staining with hematoxylin-eosin, and mounting of every tenth section on glass slides. was
Histological Findings Right Ear.—The temporal bone is in a good state of histological preservation and preparation. The superior part of the middle ear is occupied by a cystic structure
that is in free communication with the middle ear space inferiorly. The cyst over¬ laps the superior edge of the orifice of the eustachian tube but does not obstruct it. The posterior part of the cyst is lined with keratinizing squamous epithelium from which keratin debris is exfoliating into the cystic space. Anteriorly, the cyst is lined with tall ciliated columnar epithelium on a thick fibrous tissue membrane within which are collections of serous and mucinous glands and an adjacent cluster of sebaceous glands. A mass of salivary gland tissue borders the cyst at the lateral wall of the protympanum (Fig 2). The pars flaccida and pars tensa of the tympanic membrane are intact and the pars propria (fibrous layer) appears not to have been altered, indicating that no perfo¬ ration had taken place during life. The mastoid, including the antrum, is totally nonpneumatized. The area of the central mastoid tract consists of a small central fibrous core surrounded by bone marrow. The petrous apex contains normal-appear¬ ing hemopoietic tissue. The head of the malleus is surrounded by a loose fibrillar
Ear
PB Max
tissue
presumed
to be unresolved mesenThere is anterior bowing of the neck and the lateral process of the malleus. The body of the incus consists of a small remnant of bone articulating with the head of the malleus and a thin bony process making contact with the head of the stapes. The annular ligament is underde¬ veloped anteriorly and the foot-plate is ankylosed posteriorly (Fig 3). There is excessive bowing of the anterior crus. A small tensor tympani muscle is located superior and lateral to the eustachian tube and its tendon is attached to the anterior surface of the neck of the malleus. The cochleariform process is missing. The tympanic portion of the fallopian canal is dehiscent. The eustachian tube, including its tympanic orifice, is widely patent. The cochlea has the normal 2xk turns but measures only 23 mm in length (normal: 32 mm). The density of hair cells and cochlear neurons appears to be normal in this short¬ ened cochlear duct. The stria vascularis is normal. The utricule and saccule appear normal. The endolymphatic sac is wide and
chyme.
]
[
3-E-
1,000 2,000 4,000 8,000 Frequency ¡n Hz Boner—-t-Right Conduction O-O-Right _, Air Air conduction Conduction}—-i Left 250
500
x_x.L^t Fig 1 .—Audiogram at the age of 19 years „
(nine months before death) showing a bilateral symmetrical sensorineural and conductive hearing loss.
Fig 2.—Right ear: Horizontal section through superior part of temporal bone showing dehiscence of facial nerve, salivary choristoma, and nonpneumatized mastoid.
bulbous. The nonampullated end of the superior semicircular canal is narrowed. The ampulla and adjacent two thirds of the lateral canal as well as three fourths of the posterior canal are missing (Fig 4). Left Ear.—This ear is also in a good state of preservation and preparation. The superior part of the middle ear is occupied by a cystic structure that partly encom¬ passes the incus and has caused erosion of the medial surface of the head of the malleus. It communicates widely with the middle ear space inferiorly. Part of the lateral and posterior wall of the cystic space is lined with keratinizing squamous epithelium from which keratin debris is exfoliating into the cystic space. The anterior wall of the cystic space is lined with thick pseudostratified columnar ciliated epithelium on a fibrous tissue membrane within which are scattered serous and mucinous glands and an adja¬ cent cluster of sebaceous glands. There is a large mass of salivary tissue abutting the cystic space anteriorly and laterally in the protympanic area (Fig 5 and 6).
congenital cholesteatoma (cyst) in epitympanum,
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The mastoid, including the antrum, totally nonpneumatized, consisting of
small central
is a
core of fibrous tissue and bone marrow. Except for several small artifactual tears, the tym¬ panic membrane, including the pars pro¬ pria, is normal. The short process and body of the incus are exceptionally large and the body is firmly ankylosed to the medial wall of the middle ear. The long process of the incus is missing. The head and crura of the stapes are malformed and located about 4 mm anterior to the oval window, the posterior crus is ankylosed to the promon¬ tory and the foot-plate is missing. The oval window is bridged by fibrous membrane. The head of the malleus is surrounded by connective tissue. The tensor tympani muscle is located superior and lateral to the protympanum and the tendon attaches to the anterior surface of the neck of the malleus. The cochleariform process is miss¬ ing. The stapedius muscle protrudes into the middle ear and its tendon passes forward to make contact with an underde¬ veloped head of the stapes (Fig 7). The
surrounding
tympanic portion of the fallopian canal is partly dehiscent. The facial nerve is surrounded by large veins. The tympanic orifice of the eustachian tube is widely patent. The inner ear anomalies are almost
identical to those of the right ear. The cochlea measures 25 mm in length but otherwise appears normal. The endolym¬ phatic sac is wide and bulbous, the superior canal is narrowed and parts of the lateral and posterior canals are missing.
CLINICAL
AND PATHOLOGICAL FEATURES
Congenital cholesteatomata of the temporal bone are a well-recognized entity but their incidence as a cause of serious
ear
disease is not known. Of
particular interest is the pathogenesis
of cholesteatoma of the middle ear occurring in the presence of an intact tympanic membrane. In 1922, Cushing,5 when referring to cholesteato¬ mata, stated that many such cases might be "true epidermoids respon-
sible for the otitis media, rather than the reverse." It seems probable that some cases of infected middle ear cholesteatomata have their origin as epithelial rests rather than epidermal
ingrowths through postinfection per¬ forations of tympanic membrane, or retraction pockets from Schrapnell membrane. After a cholesteatoma becomes infected it is often impos¬ sible to determine its pathogenesis. Congenital cholesteatoma of the temporal bone may occur in five sites: (1) the petrous apex; (2) the mastoid; (3) the middle ear; (4) both middle ear and mastoid; and (5) the external auditory canal.
Congenital Cholesteatoma Petrous
of the
Apex
Fifteen publications721 were re¬ viewed in which there were 40 case histories of patients with congenital cholesteatomata of the petrous apex.
Fig 3.—Right ear: There is osseous fixation of posterior margin of foot-plate and stapediovestibular articulation is underdeveloped anteriorly. Anterior crus is bowed and capitellum is underdeveloped.
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Although detailed information re¬ garding symptoms and findings was sometimes omitted, certain symptoms were reported to occur more frequent¬ ly than others. The following data
Fig 4.—Developmental anomalies that occurred in right inner ear. Black area indicates labyrinth and shaded area shows outline of a normal labyrinth. Cochlear duct is shortened (23 mm, instead of the normal 32 mm), part of the superior canal is narrowed and large parts of the posterior and lateral canals are missing. Endolymphatic duct is shortened and endolymphatic sac is round, bulbous, and located entirely within the temporal bone. Left ear has almost identical anomalies.
derive from a total of 36 cases. The mean age at the time the condi¬ tion was diagnosed was 39. In 28 of 36 patients (78%) the first symptom was unilateral hearing loss. It was often a progressive sensorineural hearing loss associated with poor speech discrimi¬ nation. Thirty-four of the 36 patients (94%) exhibited hearing loss at the time of the original diagnosis. In eight patients, the hearing loss was present for at least ten years before any other symptom occurred. Facial nerve involvement was the first symptom in seven (20%), but was present at the time of the diagnosis in 30 of 36 patients (83%). The symptoms consisted of either gradually progres-
Fig 5.—Left ear: This horizontal section at level of oval window shows a membrane bridging the oval window, staped underdeveloped and fixed to the promontory, a large congenital cholesteatoma (cyst) occupying the middle ear and surrounding an enlarged incus, salivary choristoma, lateral location of tensor tympani, and anterior bowing of manubrium.
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sive facial weakness or hemifacial spasm. Other symptoms at the time of diagnosis were: vertigo in 11 (31%), head pain in six (17%), fifth cranial nerve involvement in four (11%), and sixth cranial nerve paralysis in two (6%). Ninth cranial nerve paralysis, cerebellar dysfunction, and menin¬ gitis were present in one case each. There was decreased or absent vestib¬ ular response in 27 of 29 cases tested. The typical radiological finding was a radiolucent defect in the petrous apex. Posterior fossa myelography typically showed the large lesions to have a distinctive scalloped surface contour with occasional extension into middle and posterior cranial fossae. The total protein values of cerebro¬ spinal fluid was found to be normal in 13 of 14 patients examined, in contra¬ distinction to the elevated values usually found in the presence of meningiomata and large vestibular schwannomata.8·16·2'·22 The combined statistics on the incidence of tumor growths in the cerebellopontine angle from three studies (Hitselberger and Gardner,22 Revilla,23 and Obrador,24 re¬ veal that of a total of 590 tumors, 28 (4.7%) were cholesteatomata, 30 (5%) were gliomata, 35 (6%) were menin¬ giomata, and 480 (91%) were vestibu¬ lar schwannomata.
Congenital Cholesteatoma
of the
Mastoid
The literature reveals a total of 15 in 12 publications2536 in which the authors suspected a congenital embryologie pathogenesis for choles¬ teatoma of the mastoid. Thirteen cases have been used for the following data. The mean age at the time the condi¬ tion was diagnosed was 23 years. Hearing loss with associated infec¬ tion, ossicular destruction, or perfora¬ tion of the tympanic membrane was the primary symptom in seven pa¬ tients. Swelling of the postauricular area or of the posterior wall of the external auditory canal was present in eight patients, postauricular pain in five patients, and facial paralysis in two cases
patients. Vertigo
was
a
prominent
symptom in two patients and both
found to have fistulae of the lateral semicircular canals on surgical exploration. In these patients, the presumption of an embryonic rather than a postinfection pathogenesis was based on the lack of clinical history or findings of the latter.
were
Congenital Cholesteatoma
of the
Middle Ear
The literature reveals 12 publica¬ tions10'3·23·37-45 describing 25 cases of congenital cholesteatomata localized in the middle ears. The average age at the time of diagnosis was 11 years. Nine cases were discovered inciden¬ tally during routine otologie examina¬ tions of school children. Hearing loss was the first symptom in 14 (56%) and was present at the time of diagnosis in 20 (80%). Other initial symptoms were otorrhea, otalgia, and loss of taste in two each. Partial facial paral¬ ysis was noted in one patient in which surgical exploration revealed a dehiscence of the fallopian canal. Otoscopy revealed the classical "whitish mass" behind an intact tympanic membrane in 16 patients. The mass was described as having a pinkish hue in five, one of which was diagnosed originally as a glomus jugulare tumor.42 The tym¬ panic membrane was found to be perforated with an associated otitis media in two patients. Valvassori (cited by Derlacki et al4") observed that acquired cholesteatoma of the epitympanum typically causes erosion of the inferior margin of the lateral epitympanic wall whereas congenital cholesteatoma causes erosion more superiorly, leaving the inferior mar¬ gin intact and giving the scutum a scooped-out appearance. Congenital cholesteatomata of the middle ear usually arise in the epitym¬ panum and extend into the middle ear and mastoid causing extensive erosion of the ossicles. The long process of the incus was destroyed in two thirds and the crura in one half of the reported cases.
Congenital Cholesteatoma Involving Both the Middle Ear and Mastoid
In 11 cases reported in nine publica¬ tions'·9· '3.29.37.44.47 tne cholesteatomata
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involved both the middle ears and mastoids and the initial site of involvement could not be ascertained. In this group with extensive choles¬ teatoma, the incidence of bony ero¬ sions and complications was very high. Facial nerve weakness or palsies were present in six and fistulae of the bony labyrinths in two patients. Again, the
congenital embryonic cause was un¬ certain and usually based on the history of insidious development in the absence of preceding known otitis media.
Congenital Cholesteatoma of the External Auditory Canal Cholesteatoma may occur in asso¬ ciation with atresia of the external auditory canal. Ombrédanne and Porte (1962)48 found ten such choles¬ teatomata in a total of 330 patients with major aural aplasias. We have found 20 cases reported in the litera¬ ture,4964 the first by Lüders in 1912.49 In 11 patients, the cholesteatomata were found to exist medial to a bony atresia plate in eight and medial to an atretic cartilaginous canal in three. In many of these patients, there was erosion of bone of the external auditory canal and invasion and destruction of the middle ear struc¬ tures. The diagnosis was usually made by the finding of a tender swollen area in the presence of an atretic canal (Hoenk et al).50 COMMENTS ON PATHOGENESIS AND PATHOLOGICAL FINDINGS
Considering the complicated em¬ bryonic development of the ear struc¬ tures, it is not surprising that nests of ectodermal cells might be trapped within the temporal bone as congeni¬ tal defects and, because of the proliferative nature of the tissue, present later in life as expanding tumor growths. It is now known that these
lesions may occur in the petrous apex, mastoid, middle ear, and external auditory canal. The histological struc¬ ture of the walls of these cystic struc¬ tures vary from simple keratonizing squamous (pavement) epithelium, known as epidermoid cysts, to thicker walled cysts containing a dermal
Fig 6.—Left ear: Wall of congenital cholesteatoma. It is lined partly by keratonizing squamous epithelium and partly by pseudostratified columnar ciliated epithelium beneath which is a clump of sebaceous glands. Adjacent salivary choristoma appears to drain into parotid
ductal system.
layer,
sometimes with simple glands and hair follicles and termed dermoid cysts. The contents of the cysts are determined by the histological struc¬ tures located in their walls and may consist of firm masses of whitish keratin debris, sebaceous (waxy) ma¬ terial, or more fluid content with cholesterol crystals or keratin. Our patient is an example of bilateral dermoid cysts (squamous epithelium and sebaceous glands) of the middle ears and is atypical to the extent that the lesions are bilateral and associated with salivary gland choristomata and anomalies of the ossicles, middle ear muscles, and inner ears. An interesting feature of the der¬ moide in the ears of this individual is the wide communication with the eustachian tubes. The squamous epi¬ thelium that lines the posterior four fifths of the cystic spaces is in direct continuity with pseudostratified cili-
ated epithelium of the protympanum. During histological preparation of the specimens, a soft whitish material was seen to occupy both the cystic spaces and protympanic spaces. This mate¬ rial separated and fell out of the tissue sections during preparation. This, then, accounts for the apparent empty appearance of the cystic spaces in the tissue sections. It is possible that during life, some of the cyst content may have been discharging from the eustachian tube that would have limited the growth of the cysts. The presence of salivary gland tissue in the lateral walls of the protympani is an unusual anomaly. All five cases reported previously of sali¬ vary gland choristomata have been unilateral.6569 Four were manifested by prolonged conductive hearing loss. Abnormalities of the ossicles, abnor¬ mal course of the facial nerve, and large anomalous middle ear vessels
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were seen
in two each. One showed
a
missing oval window and one a missing tensor tympani muscle. A popular debate has raged for years concerning the cause of choles¬ teatomata of the epitympanic area.
One group of authors favors the concept of epithelial migration from the region of Shrapnell membrane either as proliferation of the deeper layers of epidermis or as a retraction of Shrapnell membrane.7079 Another group supports the idea that most cholesteatomata arising in this area are the result of the epithelial rests from the first ectodermal branchial pouch.45·'0·80-85 A third group fa¬ vors the idea of metaplasia of the cuboidal epithelium of the middle ear into a squamous stratified epithe¬ lium.86"88 It seems quite obvious that choles¬ teatoma, limited to the petrous spex, the mastoid, or to the external
Fig 7.—Left ear: Horizontal section shows congenital cholesteatoma of middle ear, stapedius muscle extending into the middle ear and large veins surrounding the facial nerve. auditory canal, is of congenital em¬ infection or a history of previous toid or translabyrinthine approach89 bryonic origin. When cholesteatoma otorrhea does not necessarily rule out and rarely via a transsphenoid ap¬ a congenital origin as it seems prob¬ occurs in the middle ear alone or in proach, whereas lesions of the mastoid able that these lesions may become and middle ear require tympanomasassociation with the mastoid, it is not always possible to determine whether infected secondarily, particularly toidectomy surgery. Lesions of the external auditory canal require canal when they communicate directly with the lesion arose as an invasive process the eustachian tube. from the external auditory canal or as plasty with possible additional sur¬ It is not the purpose of this commu¬ a congenital embryonic anomaly. gery of the middle ear and mastoid nication to present a detailed descrip¬ When the lesion occurs without a depending on the extent of the in the tion of involvement. our with of experiences pres¬ surgery history previous otitis, for primary cholesteatomata. Suffice ence of an intact membrane and in the This investigation was supported by National it to say that primary cholesteatomata presence of associated anomalies, a Institutes of Health Research grant No. NSexteriis of the an petrous apex require primary congenital pathogenesis 05881 from the National Institute of Neurological highly probable. The presence of orization procedure via either a mas- Disease and Stroke. References 1. DuVerney M: Trait\l=e'\de L'organe de L'o\l=u"\ie, contenant structure, les ufages et les maladies de toutes les parties de l'oreille. Paris, E Michallet, 1683. 2. Cruveilhier J: Anatomie pathologique du corps humain. Paris, JB Bailliere, 1829. 3. M\l=u"\llerJ: Uber den feineren Bau und die Formen der kraukhaften Geschwulste. Berlin, G
Reimer, 1838.
4. Virchow R: Uber Perlgeschw\l=u"\lste.Arch Pathol Anat 8:371-418, 1855.
H: A large epidermal cholesteaparietotemporal region deforming the left hemisphere without cerebral symptoms. Surg Gynec Obstet 34:557-566, 1922. 6. Critchley M, Ferguson FR: The cerebrospinal epidermoids (cholesteatomata). Brain 5.
Cushing
toma of the
51:334-384, 1928. 7. Baron F, Baron A, Kerneis JP,
et al: Trois
de cholest\l=e'\atomesprimitifs. Rev Otoneuroophtalmol 38:168-195, 1966. 8. Brookler KH, Pulec JL, Hallberg OE: Connouveaux cas
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genital cholesteatoma of the temporal bone, negative suboccipital exploration. Arch Otolaryngol 90:449-452, 1969. 9. Cawthorne T, Griffith A: Primary cholesteatoma of the temporal bone. Arch Otolaryngol 73:252-261, 1961.
10. Cawthorne T: Congenital cholesteatoma. Arch Otolaryngol 78:243-252, 1963. 11. Cawthorne T: Cholest\l=e'\atomecong\l=e'\nital. Acta Otorhinolaryngol Belg 20(6):613-622, 1966. 12. Cole TB, McCoy G: Congenital cholestea-
toma of
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