Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You and Your Team.

Learn More →

Hereditary Congenital Cholesteatoma: A Variant of Branchio-oto Dysplasia

Hereditary Congenital Cholesteatoma: A Variant of Branchio-oto Dysplasia Abstract • A mother and daughter both presented at age 5 years with the triad of right-sided congenital cholesteatoma, right preauricular pits, and bilateral sensorineural hearing loss. Twenty-six years apart, both were treated with middle ear exploration and removal of a cholesteatoma that filled the sinus tympani, facial recess, and middle ear. The sensorineural hearing losses were nonprogressive, and the preauricular pits were asymptomatic. These two cases may represent a unique variant of branchio-oto dysplasia. The mechanism of formation of these anomalies and the possible modes of inheritance are conjectural. This triad, however, supports genetic predisposition rather than aberrant epithelial rests during morphogenesis as a possible cause in congenital cholesteatoma. (Arch Otolaryngol Head Neck Surg 1986;112:1097-1100) References 1. Derlacki EL: Congenital cholesteatoma of the middle ear and mastoid: A third report . Arch Otolaryngol Head Neck Surg 1973;97:177-182.Crossref 2. Derlacki EL: Congenital cholesteatoma of the middle ear and mastoid: A fourth report , in Shambaugh GE, Shea JJ (eds): The Shambaugh Fifth International Workshop in Middle Ear Microsurgery and Fluctuant Hearing Loss . Huntsville, Ala, Strode Publishers Inc, 1977, pp 156-161. 3. Derlacki EL: Congenital cholesteatoma today . Am J Otol 1985;6:19-21. 4. Aimi K: Role of the tympanic ring in the pathogenesis of congenital cholesteatoma . Laryngoscope 1983;93:1140-1146.Crossref 5. Sobol SM, Reichert TJ, Faw KD, et al: Intramembranous and mesotympanic cholesteatomas associated with an intact tympanic membrane in children . Ann Otol 1980;89:312-317. 6. Ruedi L: Cholesteatoma formation in the middle ear in animal experiments . Acta Otolaryngol 1959;50:233-242.Crossref 7. Fernandez C, Lindsay JR: Aural cholesteatoma: Experimental observations . Ann Otol 1960;70:1119-1141. 8. Sade J, Babiacki A, Pincus G: The metaplastic and congenital origin of cholesteatoma . Acta Otolaryngol 1983;96:119-129.Crossref 9. McDonald TJ, Cody DTR, Ryan RE: Congenital cholesteatoma of the ear . Ann Otol 1984;93:637-640. 10. House JW, Sheehy JL: Cholesteatoma with intact tympanic membrane: A report of 41 cases . Laryngoscope 1980;90:70-76.Crossref 11. Curtis AW: Congenital middle ear cholesteatoma: Two unusual cases and a review of the literature . Laryngoscope 1979;89:1159-1165.Crossref 12. Peron DL, Schuknecht HF: Congenital cholesteatomata with other anomalies . Arch Otolaryngol Head Neck Surg 1975;101:498-505.Crossref 13. Brosnan ML: Primary cholesteatomas of the temporal bone . Arch Otolaryngol Head Neck Surg 1967;86:29-32.Crossref 14. Paparella MM, Rybak L: Congenital cholesteatoma . Otolaryngol Clin North Am 1978;11:113-120. 15. Shambaugh GE, Glasscock ME: Surgical correction of congenital malformations of the sound-conducting system , in Surgery of the Ear , ed 3. Philadelphia, WB Saunders Co, 1980, pp 380-407. 16. Cremers CWRJ, Fikkers-VanNoord M: The earpits-deafness syndrome: Clinical and genetic aspects . Int J Pediatr Otorhinolaryngol 1980;2:309-322.Crossref 17. Cremers CWRJ: Congenital preauricular fistula communicating with the tympanic cavity . J Laryngol Otol 1983;97:749-753.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Otolaryngology - Head & Neck Surgery American Medical Association

Hereditary Congenital Cholesteatoma: A Variant of Branchio-oto Dysplasia

Loading next page...
 
/lp/american-medical-association/hereditary-congenital-cholesteatoma-a-variant-of-branchio-oto-RyrYDx2cyQ
Publisher
American Medical Association
Copyright
Copyright © 1986 American Medical Association. All Rights Reserved.
ISSN
0886-4470
eISSN
1538-361X
DOI
10.1001/archotol.1986.03780100085014
Publisher site
See Article on Publisher Site

Abstract

Abstract • A mother and daughter both presented at age 5 years with the triad of right-sided congenital cholesteatoma, right preauricular pits, and bilateral sensorineural hearing loss. Twenty-six years apart, both were treated with middle ear exploration and removal of a cholesteatoma that filled the sinus tympani, facial recess, and middle ear. The sensorineural hearing losses were nonprogressive, and the preauricular pits were asymptomatic. These two cases may represent a unique variant of branchio-oto dysplasia. The mechanism of formation of these anomalies and the possible modes of inheritance are conjectural. This triad, however, supports genetic predisposition rather than aberrant epithelial rests during morphogenesis as a possible cause in congenital cholesteatoma. (Arch Otolaryngol Head Neck Surg 1986;112:1097-1100) References 1. Derlacki EL: Congenital cholesteatoma of the middle ear and mastoid: A third report . Arch Otolaryngol Head Neck Surg 1973;97:177-182.Crossref 2. Derlacki EL: Congenital cholesteatoma of the middle ear and mastoid: A fourth report , in Shambaugh GE, Shea JJ (eds): The Shambaugh Fifth International Workshop in Middle Ear Microsurgery and Fluctuant Hearing Loss . Huntsville, Ala, Strode Publishers Inc, 1977, pp 156-161. 3. Derlacki EL: Congenital cholesteatoma today . Am J Otol 1985;6:19-21. 4. Aimi K: Role of the tympanic ring in the pathogenesis of congenital cholesteatoma . Laryngoscope 1983;93:1140-1146.Crossref 5. Sobol SM, Reichert TJ, Faw KD, et al: Intramembranous and mesotympanic cholesteatomas associated with an intact tympanic membrane in children . Ann Otol 1980;89:312-317. 6. Ruedi L: Cholesteatoma formation in the middle ear in animal experiments . Acta Otolaryngol 1959;50:233-242.Crossref 7. Fernandez C, Lindsay JR: Aural cholesteatoma: Experimental observations . Ann Otol 1960;70:1119-1141. 8. Sade J, Babiacki A, Pincus G: The metaplastic and congenital origin of cholesteatoma . Acta Otolaryngol 1983;96:119-129.Crossref 9. McDonald TJ, Cody DTR, Ryan RE: Congenital cholesteatoma of the ear . Ann Otol 1984;93:637-640. 10. House JW, Sheehy JL: Cholesteatoma with intact tympanic membrane: A report of 41 cases . Laryngoscope 1980;90:70-76.Crossref 11. Curtis AW: Congenital middle ear cholesteatoma: Two unusual cases and a review of the literature . Laryngoscope 1979;89:1159-1165.Crossref 12. Peron DL, Schuknecht HF: Congenital cholesteatomata with other anomalies . Arch Otolaryngol Head Neck Surg 1975;101:498-505.Crossref 13. Brosnan ML: Primary cholesteatomas of the temporal bone . Arch Otolaryngol Head Neck Surg 1967;86:29-32.Crossref 14. Paparella MM, Rybak L: Congenital cholesteatoma . Otolaryngol Clin North Am 1978;11:113-120. 15. Shambaugh GE, Glasscock ME: Surgical correction of congenital malformations of the sound-conducting system , in Surgery of the Ear , ed 3. Philadelphia, WB Saunders Co, 1980, pp 380-407. 16. Cremers CWRJ, Fikkers-VanNoord M: The earpits-deafness syndrome: Clinical and genetic aspects . Int J Pediatr Otorhinolaryngol 1980;2:309-322.Crossref 17. Cremers CWRJ: Congenital preauricular fistula communicating with the tympanic cavity . J Laryngol Otol 1983;97:749-753.Crossref

Journal

Archives of Otolaryngology - Head & Neck SurgeryAmerican Medical Association

Published: Oct 1, 1986

References