title: ENT manifestations of alkaptonuria: report on a case series.
abstract: BACKGROUND
  Alkaptonuria is an inborn error of metabolism. It is a multisystem disease with characteristic ENT manifestations. This paper reports, for the first time, the ENT findings in a cohort of alkaptonuria patients.
  
  
  METHODS
  Patients attending the National Centre for Alkaptonuria (Royal Liverpool and Broadgreen University Hospitals NHS Trust) underwent a full ENT assessment.
  
  
  RESULTS
  Eighteen of the 20 patients (90 per cent) had an ENT sign or symptom. These included discolouration of the pinna, cerumen, nasal septum and pharynx.
  
  
  CONCLUSIONS
  Discolouration of cerumen may occur before 30 years of age and may therefore be an important early clinical sign. Further audiological assessment of patients is needed to clarify if an association exists between alkaptonuria and hearing loss. Alkaptonuria is a condition that could present to the otolaryngologist. Successful early diagnosis and referral to a specialist centre is essential so that patients can be offered disease-modifying therapy.
authors.affiliation: ENT Department,Broadgreen Hospital,Royal Liverpool and Broadgreen University Hospitals NHS Trust,Liverpool,UK.
authors.forename: R A
authors.initials: RA
authors.lastname: Steven
authors.affiliation: ENT Department,Broadgreen Hospital,Royal Liverpool and Broadgreen University Hospitals NHS Trust,Liverpool,UK.
authors.forename: A J
authors.initials: AJ
authors.lastname: Kinshuck
authors.affiliation: ENT Department,Broadgreen Hospital,Royal Liverpool and Broadgreen University Hospitals NHS Trust,Liverpool,UK.
authors.forename: M S
authors.initials: MS
authors.lastname: McCormick
authors.affiliation: Department of Clinical Biochemistry and Metabolic Medicine,Royal Liverpool University Hospital,Liverpool,UK.
authors.forename: L R
authors.initials: LR
authors.lastname: Ranganath
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000474:Alkaptonuria / Q000150:complications / Q000473:pathology*; D002571:Cerumen; D015331:Cohort Studies; D054644:Ear Auricle; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009300:Nasal Septum; D010614:Pharynx; D010859:Pigmentation Disorders / Q000209:etiology / Q000473:pathology*; D055815:Young Adult
keywords: Alkaptonuria; Ear; Homogentisic Acid; Nasal Septum; Ochronosis; Otolaryngology