The Journal of Laryngology & Otology

Clinical Records

Congenital cholesteatoma in siblings

L D Landeggera1 and M S Cohena2 c1

a1 Department of Otology and Laryngology, Medical University of Vienna, Austria

a2 Department of Otology and Laryngology, Harvard Medical School, Boston, USA


Introduction: 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.

Discussion: 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.

(Accepted January 02 2013)

(Online publication October 29 2013)

Key words

  • Cholesteatoma;
  • Pediatrics;
  • Heredity


c1 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:


  Dr M S Cohen takes responsibility for the integrity of the content of the paper

Competing interests: None declared