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Occult contralateral congenital cholesteatoma: is the epidermoid formation theory enough?
Occult Contralateral Congenital Cholesteatoma: Is the Epidermoid Formation Theory Enough? Darryl T. Mueller, MD, Eric L. Schwetschenau, MD, and Glenn Isaacson, MD Bilateral congenital cholesteatomas are rare entities. Nine cases have been previously described in the literature. Many different etiologies for the development of congenital cholesteatoma have been proposed. The case of a five-year-old boy with bilateral congenital cholesteatoma is discussed. A lesion of the left ear was apparent clinically. However, the right-sided lesion was silent and was demonstrated only by radiologic exam. Theories of pathogenesis are reviewed. (Am J Otolaryngol 2004;25:285-289. © 2004 Elsevier Inc. All rights reserved.)
The theory that congenital cholesteatomas arise from embryologic rests in the anterosuperior mesotympanum proposed by Michaels1 in 1986 has dominated discussion through the last decade. Still, several researchers2-4 have questioned the adequacy of this powerful idea to explain clinical observations. Cholesteatomas have been reported occupying the posterosuperior quadrant,5 mastoid,6 and petrous apex,7 with no connection to the putative site of the epidermoid formation above the eustachian tube. In 3 recently reported series of congenital cholesteatomas, absence of cholesteatoma in the anterosuperior mesotympanum has been found in 15,8 18,9 and 5710 percent of affected ears. We report the serendipitous discovery of an occult congenital cholesteatoma of the mastoid and aditus ad antrum during imaging of a large, contralateral middle ear congenital cholesteatoma in a 5-year-old child. This case shows the advantages of routine computerized tomography in the management of cholesteatoma and the need to consider alternative mechanisms for the genesis of congenital cholesteatoma.
From the Department of Otolaryngology and Bronchoesophagology, Temple University Children’s Medical Center, Philadelphia, PA. Address correspondence to: Darryl T. Mueller, MD, Department of Otolaryngology and Bronchoesophagology, Temple University Children’s Medical Center, 3400 North Broad Street, Philadelphia, PA 19140. E-mail: [email protected]. © 2004 Elsevier Inc. All rights reserved. 0196-0709/$ - see front matter doi:10.1016/j.amjoto.2004.02.004
CASE REPORT A six-year-old boy was referred 2 weeks after the development of persistent otorrhea unresponsive to medical therapy. On examination of the ears, the right ear was noted to be normal, whereas squamous debris was present on the left tympanic membrane. Once this debris was suctioned, a small perforation was noted overlying a bulging white middle ear mass. Audiometric testing showed a 35-dB conductive hearing loss on the left and a 10-dB air-bone gap on the right. The boy had only rare prior episodes of otitis media and no prior history of otorrhea or tympanic perforation. There was no evidence of retraction pocket formation. A computed tomography (CT) scan was obtained that showed an extensive soft-tissue density involving the left middle ear, epitympanum, and mastoid with ossicular erosion. Remarkably, a contralateral soft-tissue density was present in the right posterior epitympanum and aditus ad antrum (Figs 1 and 2). To confirm the unusual diagnosis of an occult second congenital cholesteatoma, a magnetic resonance imaging was performed. This showed signal characteristics consistent with cholesteatoma rather than mucosal thickening or effusion. The child underwent a left postauricular atticotomy, canal-wall up mastoidectomy, and type IV tympanoplasty with placement of a total ossicular reconstruction prosthesis. The extensive congenital cholesteatoma (Fig 3) was noted to involve the entire middle ear, attic, and mastoid to the sinodural angle.
American Journal of Otolaryngology, Vol 25, No 4 (July-August), 2004: pp 285-289
285
286
Fig 1.
MUELLER ET AL
CT image of clinically apparent cholesteatoma.
Fig 2.
CT image of occult cholesteatoma.
Fig 3. Endoscopic photograph of left ear in surgical position. Note easily apparent cholesteatoma bulging from middle ear.
OCCULT CONGENITAL CHOLESTEATOMA
287
Fig 4. Endoscopic photograph of right ear in surgical position. Cholesteatoma is just visible in posterosuperior quadrant.
Two months after his first procedure, the patient returned to the operating room for extirpation of the right-sided lesion. By this point, the tip of the cholesteatoma was just visible in the posterosuperior quadrant on otoscopy (Fig 4). At surgery, it filled the epitympanum and extended toward the mastoid (Fig 5). The incus body and head of the malleus were eroded. A right attico-mastoidectomy and type III tympanoplasty with a Wehr’s malleus to stapes hydroxyapatite prosthesis and conchal cartilage reconstruction of the aditus ad antrum was performed. The boy remains free of disease 4 years after his surgeries with pure tone averages at 15 and 50 dB for the right and left ears, respectively. DISCUSSION Eustachian tube dysfunction commonly affects both ears; thus, bilateral acquired cholesteatomas are common.11 Congenital cho-
lesteatomas are, on the other hand, regarded as sporadic events of low frequency; thus, bilateral disease should be exceedingly rare.12-19 Friedberg20 estimates that no more than 3% of congenital cholesteatomas are bilateral. Of the handful of lesions in the literature, even fewer are symmetric anterosuperior cysts. Apart from its rarity, the case we describe is important for several reasons. The role of CT in the management of cholesteatoma remains in dispute. Although CT provides some preoperative estimate of the extent of disease, some experienced otologists believe it does little to alter operative management. Many would argue that for limited lesions in the mesotympanum, preoperative CT is unnecessary.21 Without CT, the occult, contralateral lesion would not have been found for at least 3 months, when it became visible in the posterosuperior quadrant, and probably later, limiting the chances for an excellent hearing
288
MUELLER ET AL
Fig 5.
Intraoperative view of right ear. Cholesteatoma wraps anterior and posterior to malleus.
result after surgery. Even a 3% incidence of multicentricity might not be enough to argue for CT imaging in all cases of congenital cholesteatoma, but given the modest advantages CT offers in operative planning and preoperative counseling, we would suggest it for any but the most limited lesions. This approach has also been recommended by El-Bitar and Choi.22 Several authors have commented on the aggressive nature of cholesteatoma in children.23 This case documents the rapid progression of a congenital lesion of the aditus ad antrum and epitympanum to involve the posterior mesotympanum in a matter of 2 months. McDonald et al’s7 impression that congenital cholesteatomas are less aggressive than their acquired counterpart is not borne out in this case. Perhaps most important are the implications for the epidermoid formation theory of congenital cholesteatoma. Advocates of this
proposed etiology have implied that the epidermoid formation is the embryologic anlage of congenital cholesteatomas.24,25 The epidermoid formation is defined as a rest of squamous epithelium located between the anterosuperior edge of the tympanic membrane and the anterior limb of the tympanic ring.2 In studies of temporal bones, it is present in 18% of fetal specimens and about 13% of postnatal specimens.26 Thus far, a similar formation has not been described elsewhere in the temporal bone. Our case of a contralateral lesion limited to the posterosuperior epitympanum supports the assertion of Parisier et al5 that the epidermoid formation theory is inadequate to explain the origin of all congenital cholesteatomas. The presence of bilateral lesions of different types could be explained by squamous debris of amniotic origin as described by Eavey,27 by epidermoid formation in other areas of the temporal bone, or by squamous metaplasia.13 Theories depending on squa-
OCCULT CONGENITAL CHOLESTEATOMA
mous elements arising from the tympanic membrane4,28 fit less well with a lesion in the aditus ad antrum, petrous apex, or inner ear.29 REFERENCES 1. Michaels L: An epidermoid formation in the developing middle ear: Possible source of cholesteatoma. J Otolaryngol 15:169-174, 1986 2. Kayhan FT, Mutlu C, Schachern PA, et al: Significance of epidermoid formations in the middle ear in fetuses and children. Arch Otolaryngol Head Neck Surg 123:1293-1297, 1997 3. Zappia JJ, Wiet RJ: Congenital cholesteatoma. Arch Otolaryngol Head Neck Surg 121:19-22, 1995 4. Weber PC, Adkins WY Jr: Congenital cholesteatomas in the tympanic membrane. Laryngoscope 107:11811184, 1997 5. Parisier SC, Levenson MJ, Edelstein DR, et al: Management of congenital pediatric cholesteatomas. Am J Otol 10:121-123, 1989 6. Huang TS: Double intratemporal congenital cholesteatomas combined with ossicular anomalies. Ann Otol Rhinol Laryngol 95:401-403, 1986 7. McDonald TJ, Cody DT, Ryan RE Jr: Congenital cholesteatoma of the ear. Ann Otol Rhinol Laryngol 93:637640, 1984 8. Nelson M, Gilles R, Koltai PJ, et al: Congenital cholesteatoma classification, management, and outcome. Arch Otolaryngol Head Neck Surg 128:810-814, 2002 9. Potsic WP, Korman SB, Samadi DS, et al: Congenital cholesteatoma: 20 years’ experience at The Children’s Hospital of Philadelphia. Otolaryngol Head Neck Surg 126:409-414, 2002 10. Yeo SW, Kim SW, Chang KH, et al: The clinical evaluations of pathophysiology for congenital middle ear cholesteatoma. Am J Otolaryngol 22:184-189, 2001 11. Darrouzet V, Duclos JY, Portmann D, et al: Les Cholesteatomes de l’oreille moyenne chez l’enfant. Analyse clinique, evolutive et therapeutique d’une serie de 215 cas consecutifs. Ann Otolaryngol Chir Cervicofac 114:272-283, 1997 (7-8) 12. Wang R, Zubick HH, Vernick DM, et al: Bilateral congenital middle ear cholesteatomas. Laryngoscope 94: 1461-1463, 1984 13. Peron DL, Schuknecht HF: Congenital cholesteatoma with other anomalies. Arch Otolaryngol 101:498515, 1975
289
14. Wingert RH, McCurdy JA Jr, Hays LL: Congenital tympanic cholesteatoma. Ear Nose Throat J 55:323-327, 1976 15. Curtis AW: Congenital middle ear cholesteatoma: Two unusual cases and a review of the literature. Laryngoscope 89:1159-1165, 1979 16. Litman RS, Parisier SC, Hausman SA, et al: Bilateral congenital cholesteatoma: A cause or result of chronic otitis media with effusion? Am J Otol 8:426-431, 1987 17. Braganza RA, Kearns DB: Bilateral congenital cholesteatomas. Am J Otol 14:191-193, 1993 18. Nishizaki K, Yamamoto S, Fukazawa M, et al: Bilateral congenital cholesteatoma. Int J Ped Oto 34:259264, 1996 19. Litman RS, Smouha E, Sher WH, et al: Two cases of bilateral congenital cholesteatoma-usual and unusual presentations. Int J Pediatr Oto 36:241-252, 1996 20. Friedberg J: Congenital cholesteatoma. Laryngoscope 104:1-24, 1994 (suppl) 21. Blevins NH, Carter BL: Routine preoperative imaging in chronic ear surgery. Am J Otol 19:527-535, 1998 22. El-Bitar MA, Choi SS: Bilateral occurrence of congenital middle ear cholesteatoma. Otolaryngol Head Neck Surg 127:480-482, 2002 23. Rosenfeld RM, Moura RL, Bluestone CD: Predictors of residual-recurrent cholesteatoma in children. Arch Otolaryngol Head Neck Surg 118:384-391, 1992 24. Levenson MJ, Michaels L, Parisier SC, et al: Congenital cholesteatomas in children: An embryologic correlation. Laryngoscope 98:949-955, 1988 25. Levenson MJ, Michaels L, Parisier SC: Congenital cholesteatomas of the middle ear in children: Origin and management. Otolaryngol Clin North Am 22:941-954, 1989 26. Levine JL, Wright CG, Pawlowski KS, et al: Postnatal persistence of epidermoid rests in the human middle ear. Laryngoscope 108:70-73, 1998 27. Eavey RD: Abnormalities of the neonatal ear: Otoscopic observations, histologic observations, and a model for contamination of the middle ear by cellular contents of amniotic fluid. Laryngoscope 103:1-31, 1993 (suppl 58) 28. Tos M: A new pathogenesis of mesotympanic (congenital) cholesteatoma. Laryngoscope 110:1890-1897, 2000 29. Spingarn AT, Selesnick SH, Minick CR: Inner ear cholesteatoma: An embryologic aberration. Otolaryngol Head Neck Surg 110:333-337, 1994
The theory that congenital cholesteatomas arise from embryologic rests in the anterosuperior mesotympanum proposed by Michaels1 in 1986 has dominated discussion through the last decade. Still, several researchers2-4 have questioned the adequacy of this powerful idea to explain clinical observations. Cholesteatomas have been reported occupying the posterosuperior quadrant,5 mastoid,6 and petrous apex,7 with no connection to the putative site of the epidermoid formation above the eustachian tube. In 3 recently reported series of congenital cholesteatomas, absence of cholesteatoma in the anterosuperior mesotympanum has been found in 15,8 18,9 and 5710 percent of affected ears. We report the serendipitous discovery of an occult congenital cholesteatoma of the mastoid and aditus ad antrum during imaging of a large, contralateral middle ear congenital cholesteatoma in a 5-year-old child. This case shows the advantages of routine computerized tomography in the management of cholesteatoma and the need to consider alternative mechanisms for the genesis of congenital cholesteatoma.
From the Department of Otolaryngology and Bronchoesophagology, Temple University Children’s Medical Center, Philadelphia, PA. Address correspondence to: Darryl T. Mueller, MD, Department of Otolaryngology and Bronchoesophagology, Temple University Children’s Medical Center, 3400 North Broad Street, Philadelphia, PA 19140. E-mail: [email protected]. © 2004 Elsevier Inc. All rights reserved. 0196-0709/$ - see front matter doi:10.1016/j.amjoto.2004.02.004
CASE REPORT A six-year-old boy was referred 2 weeks after the development of persistent otorrhea unresponsive to medical therapy. On examination of the ears, the right ear was noted to be normal, whereas squamous debris was present on the left tympanic membrane. Once this debris was suctioned, a small perforation was noted overlying a bulging white middle ear mass. Audiometric testing showed a 35-dB conductive hearing loss on the left and a 10-dB air-bone gap on the right. The boy had only rare prior episodes of otitis media and no prior history of otorrhea or tympanic perforation. There was no evidence of retraction pocket formation. A computed tomography (CT) scan was obtained that showed an extensive soft-tissue density involving the left middle ear, epitympanum, and mastoid with ossicular erosion. Remarkably, a contralateral soft-tissue density was present in the right posterior epitympanum and aditus ad antrum (Figs 1 and 2). To confirm the unusual diagnosis of an occult second congenital cholesteatoma, a magnetic resonance imaging was performed. This showed signal characteristics consistent with cholesteatoma rather than mucosal thickening or effusion. The child underwent a left postauricular atticotomy, canal-wall up mastoidectomy, and type IV tympanoplasty with placement of a total ossicular reconstruction prosthesis. The extensive congenital cholesteatoma (Fig 3) was noted to involve the entire middle ear, attic, and mastoid to the sinodural angle.
American Journal of Otolaryngology, Vol 25, No 4 (July-August), 2004: pp 285-289
285
286
Fig 1.
MUELLER ET AL
CT image of clinically apparent cholesteatoma.
Fig 2.
CT image of occult cholesteatoma.
Fig 3. Endoscopic photograph of left ear in surgical position. Note easily apparent cholesteatoma bulging from middle ear.
OCCULT CONGENITAL CHOLESTEATOMA
287
Fig 4. Endoscopic photograph of right ear in surgical position. Cholesteatoma is just visible in posterosuperior quadrant.
Two months after his first procedure, the patient returned to the operating room for extirpation of the right-sided lesion. By this point, the tip of the cholesteatoma was just visible in the posterosuperior quadrant on otoscopy (Fig 4). At surgery, it filled the epitympanum and extended toward the mastoid (Fig 5). The incus body and head of the malleus were eroded. A right attico-mastoidectomy and type III tympanoplasty with a Wehr’s malleus to stapes hydroxyapatite prosthesis and conchal cartilage reconstruction of the aditus ad antrum was performed. The boy remains free of disease 4 years after his surgeries with pure tone averages at 15 and 50 dB for the right and left ears, respectively. DISCUSSION Eustachian tube dysfunction commonly affects both ears; thus, bilateral acquired cholesteatomas are common.11 Congenital cho-
lesteatomas are, on the other hand, regarded as sporadic events of low frequency; thus, bilateral disease should be exceedingly rare.12-19 Friedberg20 estimates that no more than 3% of congenital cholesteatomas are bilateral. Of the handful of lesions in the literature, even fewer are symmetric anterosuperior cysts. Apart from its rarity, the case we describe is important for several reasons. The role of CT in the management of cholesteatoma remains in dispute. Although CT provides some preoperative estimate of the extent of disease, some experienced otologists believe it does little to alter operative management. Many would argue that for limited lesions in the mesotympanum, preoperative CT is unnecessary.21 Without CT, the occult, contralateral lesion would not have been found for at least 3 months, when it became visible in the posterosuperior quadrant, and probably later, limiting the chances for an excellent hearing
288
MUELLER ET AL
Fig 5.
Intraoperative view of right ear. Cholesteatoma wraps anterior and posterior to malleus.
result after surgery. Even a 3% incidence of multicentricity might not be enough to argue for CT imaging in all cases of congenital cholesteatoma, but given the modest advantages CT offers in operative planning and preoperative counseling, we would suggest it for any but the most limited lesions. This approach has also been recommended by El-Bitar and Choi.22 Several authors have commented on the aggressive nature of cholesteatoma in children.23 This case documents the rapid progression of a congenital lesion of the aditus ad antrum and epitympanum to involve the posterior mesotympanum in a matter of 2 months. McDonald et al’s7 impression that congenital cholesteatomas are less aggressive than their acquired counterpart is not borne out in this case. Perhaps most important are the implications for the epidermoid formation theory of congenital cholesteatoma. Advocates of this
proposed etiology have implied that the epidermoid formation is the embryologic anlage of congenital cholesteatomas.24,25 The epidermoid formation is defined as a rest of squamous epithelium located between the anterosuperior edge of the tympanic membrane and the anterior limb of the tympanic ring.2 In studies of temporal bones, it is present in 18% of fetal specimens and about 13% of postnatal specimens.26 Thus far, a similar formation has not been described elsewhere in the temporal bone. Our case of a contralateral lesion limited to the posterosuperior epitympanum supports the assertion of Parisier et al5 that the epidermoid formation theory is inadequate to explain the origin of all congenital cholesteatomas. The presence of bilateral lesions of different types could be explained by squamous debris of amniotic origin as described by Eavey,27 by epidermoid formation in other areas of the temporal bone, or by squamous metaplasia.13 Theories depending on squa-
OCCULT CONGENITAL CHOLESTEATOMA
mous elements arising from the tympanic membrane4,28 fit less well with a lesion in the aditus ad antrum, petrous apex, or inner ear.29 REFERENCES 1. Michaels L: An epidermoid formation in the developing middle ear: Possible source of cholesteatoma. J Otolaryngol 15:169-174, 1986 2. Kayhan FT, Mutlu C, Schachern PA, et al: Significance of epidermoid formations in the middle ear in fetuses and children. Arch Otolaryngol Head Neck Surg 123:1293-1297, 1997 3. Zappia JJ, Wiet RJ: Congenital cholesteatoma. Arch Otolaryngol Head Neck Surg 121:19-22, 1995 4. Weber PC, Adkins WY Jr: Congenital cholesteatomas in the tympanic membrane. Laryngoscope 107:11811184, 1997 5. Parisier SC, Levenson MJ, Edelstein DR, et al: Management of congenital pediatric cholesteatomas. Am J Otol 10:121-123, 1989 6. Huang TS: Double intratemporal congenital cholesteatomas combined with ossicular anomalies. Ann Otol Rhinol Laryngol 95:401-403, 1986 7. McDonald TJ, Cody DT, Ryan RE Jr: Congenital cholesteatoma of the ear. Ann Otol Rhinol Laryngol 93:637640, 1984 8. Nelson M, Gilles R, Koltai PJ, et al: Congenital cholesteatoma classification, management, and outcome. Arch Otolaryngol Head Neck Surg 128:810-814, 2002 9. Potsic WP, Korman SB, Samadi DS, et al: Congenital cholesteatoma: 20 years’ experience at The Children’s Hospital of Philadelphia. Otolaryngol Head Neck Surg 126:409-414, 2002 10. Yeo SW, Kim SW, Chang KH, et al: The clinical evaluations of pathophysiology for congenital middle ear cholesteatoma. Am J Otolaryngol 22:184-189, 2001 11. Darrouzet V, Duclos JY, Portmann D, et al: Les Cholesteatomes de l’oreille moyenne chez l’enfant. Analyse clinique, evolutive et therapeutique d’une serie de 215 cas consecutifs. Ann Otolaryngol Chir Cervicofac 114:272-283, 1997 (7-8) 12. Wang R, Zubick HH, Vernick DM, et al: Bilateral congenital middle ear cholesteatomas. Laryngoscope 94: 1461-1463, 1984 13. Peron DL, Schuknecht HF: Congenital cholesteatoma with other anomalies. Arch Otolaryngol 101:498515, 1975
289
14. Wingert RH, McCurdy JA Jr, Hays LL: Congenital tympanic cholesteatoma. Ear Nose Throat J 55:323-327, 1976 15. Curtis AW: Congenital middle ear cholesteatoma: Two unusual cases and a review of the literature. Laryngoscope 89:1159-1165, 1979 16. Litman RS, Parisier SC, Hausman SA, et al: Bilateral congenital cholesteatoma: A cause or result of chronic otitis media with effusion? Am J Otol 8:426-431, 1987 17. Braganza RA, Kearns DB: Bilateral congenital cholesteatomas. Am J Otol 14:191-193, 1993 18. Nishizaki K, Yamamoto S, Fukazawa M, et al: Bilateral congenital cholesteatoma. Int J Ped Oto 34:259264, 1996 19. Litman RS, Smouha E, Sher WH, et al: Two cases of bilateral congenital cholesteatoma-usual and unusual presentations. Int J Pediatr Oto 36:241-252, 1996 20. Friedberg J: Congenital cholesteatoma. Laryngoscope 104:1-24, 1994 (suppl) 21. Blevins NH, Carter BL: Routine preoperative imaging in chronic ear surgery. Am J Otol 19:527-535, 1998 22. El-Bitar MA, Choi SS: Bilateral occurrence of congenital middle ear cholesteatoma. Otolaryngol Head Neck Surg 127:480-482, 2002 23. Rosenfeld RM, Moura RL, Bluestone CD: Predictors of residual-recurrent cholesteatoma in children. Arch Otolaryngol Head Neck Surg 118:384-391, 1992 24. Levenson MJ, Michaels L, Parisier SC, et al: Congenital cholesteatomas in children: An embryologic correlation. Laryngoscope 98:949-955, 1988 25. Levenson MJ, Michaels L, Parisier SC: Congenital cholesteatomas of the middle ear in children: Origin and management. Otolaryngol Clin North Am 22:941-954, 1989 26. Levine JL, Wright CG, Pawlowski KS, et al: Postnatal persistence of epidermoid rests in the human middle ear. Laryngoscope 108:70-73, 1998 27. Eavey RD: Abnormalities of the neonatal ear: Otoscopic observations, histologic observations, and a model for contamination of the middle ear by cellular contents of amniotic fluid. Laryngoscope 103:1-31, 1993 (suppl 58) 28. Tos M: A new pathogenesis of mesotympanic (congenital) cholesteatoma. Laryngoscope 110:1890-1897, 2000 29. Spingarn AT, Selesnick SH, Minick CR: Inner ear cholesteatoma: An embryologic aberration. Otolaryngol Head Neck Surg 110:333-337, 1994