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Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series

Received: 27 September 2019     Accepted: 25 November 2019     Published: 6 December 2019
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Abstract

Background: Goldenhar Syndrome, also called Oculoauricular Vertebral Dysplasia, includes abnormalities of the first and second branchial arches. Ear abnormalities are present in approximately 92% of those with Goldenhar Syndrome [1]. There is a wide spectrum for ear anomalies; they can range from preauricular tags and pits, microtia, external auditory canal (EAC) atresia, ossicular malformations, and facial nerve hypoplasia, which can lead to an array of clinical findings [5]. Hearing loss is an unfortunate consequence of these clinical findings, and often results in subsequent speech and language delays [4]. Despite the widely reported auricular and audiologic manifestations of this disease, a review of the literature revealed no detailed description or analysis of congenital canal cholesteatoma specifically in this patient population. Objective: This study aims to characterize congenital external auditory canal cholesteatoma as a feature of Goldenhar Syndrome. Method: A retrospective case series was conducted with patients seen at the UNC Craniofacial Center in Chapel Hill, NC. Inclusion criteria included patients with a diagnosis of Goldenhar Syndrome also found to have congenital cholesteatoma necessitating surgery. A total of three patients were identified who met inclusion criteria. Results: Three patients with Goldenhar Syndrome were identified who also had congenital external auditory canal cholesteatoma. All three patients underwent surgical management of their disease. Conclusion: Congenital external auditory canal cholesteatoma appears to be a feature of Goldenhar Syndrome not widely described in current literature. Though rare, it is a relevant disease process with significant clinical implications for both hearing as well as speech and language development. Awareness of this condition can thus help guide practitioners in the care of these patients.

Published in International Journal of Otorhinolaryngology (Volume 5, Issue 2)
DOI 10.11648/j.ijo.20190502.13
Page(s) 44-47
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2019. Published by Science Publishing Group

Keywords

Goldenhar Syndrome, Congenital External Auditory Canal Cholesteatoma, Oculauriculovertbral Spectrum, Hemifacial Microsomia, Craniofacial Microsomia

References
[1] Gorlin RJ, Cohen MM, Hennekam, RC., (2001). Syndromes of the Head and Neck. Oxford [England: Oxford University Press.] pp 790-797.
[2] Hartsfield JK. Review of the etiologic heterogeneity of the oculo-auriculo-vertebral spectrum (hemifacial microsomia). Orthodontics & craniofacial research. 08/2007; 10 (3): 121-128.
[3] Goetze TB. 2016. Hearing characterization in oculoauriculovertebral spectrum: A prospective study with 10 patients. American Journal of Medical Genetics. Part A. 173 (2): 309-314.
[4] Bogusiak K. Goldenhar syndrome: Current perspectives. World journal of pediatrics: WJP. 10/2017; 13 (5): 405-415.
[5] Cohen MS, Samango-Sprouse CA, Stern HJ, Custer DA, Vaught DR, Saal HM, Tifft CJ, Rosenbaum KN. 1995. Neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum and the correlation of prognosis with physical findings. Am J Med Genet 60: 535–540.
[6] Werler MM, Sheehan JE, Hayes C, Padwa BL, Mitchell AA, Mulliken JB. 2004. Demographic and reproductive factors associated with hemifacial microsomia. Cleft Palate Craniofac J 41: 494–500.
[7] Kaye, C. I., Martin, A. O., Rollnick, B. R., Nagatoshi, K., Israel, J., Hermanoff, M., Tropea, B., Richtsmeier, J. T., Morton, N. E., 1992. Oculoauriculovertebral anomaly: segregation analysis. Am. J. Med. Genet. 43, 913e917.
[8] Heike CL, Hing AV: Craniofacial Microsomia Overview. 2009. GeneReviews [Internet]. Edited by: Pagon RA, Bird TD, Dolan CR, et al. 1993, Seattle (WA): University of Washington, Seattle.
[9] Luquetti DV, Speltz ML, Wallace ER, Siebold B, Collett BR, Drake AF, Johns AL, Kapp-Simon KA, Kinter SL, Leroux BG, Magee L, Norton S, Sie K, Heike CL. Methods and challenges in a cohort study of infants and toddlers with craniofacial microsomia: The clock study. The Cleft palate-craniofacial journal. 8/2019; 56 (7): 877-889.
[10] Speltz, ML, Wallace, ER, Collett, BR, Heike, CL, Luquetti, DV, Werler, MM. Intelligence and academic achievement of adolescents with craniofacial microsomia. Plast Reconstr Surg. 2017; 140 (3): 571–580.
[11] Friedberg J. Congenital cholesteatoma. The Laryngoscope. 03/1994; 104 (s62): 1-24.
[12] T. Sap, G. Ugur, A. Karavus, N. Agrali, Ug Akbulut Giant cholesteatoma of the external auditory canal Ann. Otol. Rhinol. Laryngol., 106 (6) (1997), pp. 471-473.
[13] Quantin L. Congenital cholesteatoma of external auditory canal. International journal of pediatric otorhinolaryngology. 02/2002; 62 (2): 175-179.
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  • APA Style

    Sarah Elizabeth Hodge, April Amber Peterson, Brendan Powers O’Connell, Amelia Fischer Drake. (2019). Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series. International Journal of Otorhinolaryngology, 5(2), 44-47. https://doi.org/10.11648/j.ijo.20190502.13

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    ACS Style

    Sarah Elizabeth Hodge; April Amber Peterson; Brendan Powers O’Connell; Amelia Fischer Drake. Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series. Int. J. Otorhinolaryngol. 2019, 5(2), 44-47. doi: 10.11648/j.ijo.20190502.13

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    AMA Style

    Sarah Elizabeth Hodge, April Amber Peterson, Brendan Powers O’Connell, Amelia Fischer Drake. Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series. Int J Otorhinolaryngol. 2019;5(2):44-47. doi: 10.11648/j.ijo.20190502.13

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  • @article{10.11648/j.ijo.20190502.13,
      author = {Sarah Elizabeth Hodge and April Amber Peterson and Brendan Powers O’Connell and Amelia Fischer Drake},
      title = {Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series},
      journal = {International Journal of Otorhinolaryngology},
      volume = {5},
      number = {2},
      pages = {44-47},
      doi = {10.11648/j.ijo.20190502.13},
      url = {https://doi.org/10.11648/j.ijo.20190502.13},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijo.20190502.13},
      abstract = {Background: Goldenhar Syndrome, also called Oculoauricular Vertebral Dysplasia, includes abnormalities of the first and second branchial arches. Ear abnormalities are present in approximately 92% of those with Goldenhar Syndrome [1]. There is a wide spectrum for ear anomalies; they can range from preauricular tags and pits, microtia, external auditory canal (EAC) atresia, ossicular malformations, and facial nerve hypoplasia, which can lead to an array of clinical findings [5]. Hearing loss is an unfortunate consequence of these clinical findings, and often results in subsequent speech and language delays [4]. Despite the widely reported auricular and audiologic manifestations of this disease, a review of the literature revealed no detailed description or analysis of congenital canal cholesteatoma specifically in this patient population. Objective: This study aims to characterize congenital external auditory canal cholesteatoma as a feature of Goldenhar Syndrome. Method: A retrospective case series was conducted with patients seen at the UNC Craniofacial Center in Chapel Hill, NC. Inclusion criteria included patients with a diagnosis of Goldenhar Syndrome also found to have congenital cholesteatoma necessitating surgery. A total of three patients were identified who met inclusion criteria. Results: Three patients with Goldenhar Syndrome were identified who also had congenital external auditory canal cholesteatoma. All three patients underwent surgical management of their disease. Conclusion: Congenital external auditory canal cholesteatoma appears to be a feature of Goldenhar Syndrome not widely described in current literature. Though rare, it is a relevant disease process with significant clinical implications for both hearing as well as speech and language development. Awareness of this condition can thus help guide practitioners in the care of these patients.},
     year = {2019}
    }
    

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  • TY  - JOUR
    T1  - Clinical Presentation of Congenital Cholesteatoma of the External Auditory Canal in Goldenhar Syndrome: A Case Series
    AU  - Sarah Elizabeth Hodge
    AU  - April Amber Peterson
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    AB  - Background: Goldenhar Syndrome, also called Oculoauricular Vertebral Dysplasia, includes abnormalities of the first and second branchial arches. Ear abnormalities are present in approximately 92% of those with Goldenhar Syndrome [1]. There is a wide spectrum for ear anomalies; they can range from preauricular tags and pits, microtia, external auditory canal (EAC) atresia, ossicular malformations, and facial nerve hypoplasia, which can lead to an array of clinical findings [5]. Hearing loss is an unfortunate consequence of these clinical findings, and often results in subsequent speech and language delays [4]. Despite the widely reported auricular and audiologic manifestations of this disease, a review of the literature revealed no detailed description or analysis of congenital canal cholesteatoma specifically in this patient population. Objective: This study aims to characterize congenital external auditory canal cholesteatoma as a feature of Goldenhar Syndrome. Method: A retrospective case series was conducted with patients seen at the UNC Craniofacial Center in Chapel Hill, NC. Inclusion criteria included patients with a diagnosis of Goldenhar Syndrome also found to have congenital cholesteatoma necessitating surgery. A total of three patients were identified who met inclusion criteria. Results: Three patients with Goldenhar Syndrome were identified who also had congenital external auditory canal cholesteatoma. All three patients underwent surgical management of their disease. Conclusion: Congenital external auditory canal cholesteatoma appears to be a feature of Goldenhar Syndrome not widely described in current literature. Though rare, it is a relevant disease process with significant clinical implications for both hearing as well as speech and language development. Awareness of this condition can thus help guide practitioners in the care of these patients.
    VL  - 5
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Author Information
  • Department of Otolaryngology/Head and Neck Surgery, The University of North Carolina School of Medicine, Chapel Hill, USA

  • Department of Otolaryngology/Head and Neck Surgery, The University of North Carolina School of Medicine, Chapel Hill, USA

  • Department of Otolaryngology/Head and Neck Surgery, The University of North Carolina School of Medicine, Chapel Hill, USA

  • Department of Otolaryngology/Head and Neck Surgery, The University of North Carolina School of Medicine, Chapel Hill, USA

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