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Congenital cholesteatoma in siblings

  • L D Landegger (a1) and M S Cohen (a2)

The exact aetiology of congenital cholesteatoma, the less common form of this destructive disease, is still under debate.

Case report:

A two-year-old boy was referred to paediatric otolaryngology with persistent, bloody, left-sided otorrhoea refractory to oral and ototopical antibiotics. Prior to its onset at age 16 months, all ear examinations on the affected side were normal. Physical examination, imaging with computed tomography and eventual tympanomastoidectomy revealed extensive cholesteatoma. The extent of the disease, age at onset of symptoms and absence of otological disease before initial presentation suggested the diagnosis of congenital cholesteatoma. Review of the family history revealed that the patient's older brother had undergone tympanomastoidectomy for a small, well-encapsulated, mesotympanic congenital cholesteatoma at two years of age.


This case joins a single, previous report describing congenital cholesteatoma in multiple family members, suggesting that in some cases, hereditary factors may play a role in the formation of the disease.

Corresponding author
Address for correspondence: Dr M S Cohen, Division of Pediatric Otolaryngology, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, Massachussetts, USA, 02114 Fax: +1 617 573 6845 E-mail:
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1 M Bennett , F Warren , GC Jackson , D Kaylie . Congenital cholesteatoma: theories, facts, and 53 patients. Otolaryngol Clin North Am 2006;39:1081–94

2 WP Potsic , SB Korman , DS Samadi , RF Wetmore . Congenital cholesteatoma: 20 years' experience at The Children's Hospital of Philadelphia. Otolaryngol Head Neck Surg 2002;126:409–14

3 GT Richter , KH Lee . Contemporary assessment and management of congenital cholesteatoma. Curr Opin Otolaryngol Head Neck Surg 2009;17:339–45

4 K Kazahaya , WP Potsic . Congenital cholesteatoma. Curr Opin Otolaryngol Head Neck Surg 2004;12:398403

5 AF Lipkin , NJ Coker , HA Jenkins . Hereditary congenital cholesteatoma. A variant of branchio-oto dysplasia. Arch Otolaryngol Head Neck Surg 1986;112:1097–100

6 R Persaud , D Hajioff , A Trinidade , S Khemani , MN Bhattacharyya , N Papadimitriou Evidence-based review of aetiopathogenic theories of congenital and acquired cholesteatoma. J Laryngol Otol 2007;121:1013–9

7 RW Teed . Cholesteatoma verum tympani: its relationship to the first epibranchial placode. Arch Otolaryngol 1936;24:455–74

9 K Aimi . Role of the tympanic ring in the pathogenesis of congenital cholesteatoma. Laryngoscope 1983;93:1140–6

10 C Northrop , J Piza , RD Eavey . Histological observations of amniotic fluid cellular content in the ear of neonates and infants. Int J Pediatr Otorhinolaryngol 1986;11:113–27

11 M Tos . A new pathogenesis of mesotympanic (congenital) cholesteatoma. Laryngoscope 2000;110:1890–7

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The Journal of Laryngology & Otology
  • ISSN: 0022-2151
  • EISSN: 1748-5460
  • URL: /core/journals/journal-of-laryngology-and-otology
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