Hostname: page-component-6766d58669-mzsfj Total loading time: 0 Render date: 2026-05-19T17:50:46.813Z Has data issue: false hasContentIssue false
  • English
  • Français

ENT manifestations of alkaptonuria: report on a case series

Published online by Cambridge University Press:  08 October 2015

R A Steven ,
A J Kinshuck ,
M S McCormick  and
L R Ranganath
R A Steven*
Affiliation:
ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
A J Kinshuck
Affiliation:
ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
M S McCormick
Affiliation:
ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Liverpool, UK
L R Ranganath
Affiliation:
Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK
*
Address for correspondence: Mr Richard A Steven, ENT Department, Broadgreen Hospital, Royal Liverpool and Broadgreen University Hospitals NHS Trust, Kent Lodge, Thomas Drive, Liverpool L14 3LB, UK E-mail: richardsteven@doctors.org.uk
Get access Rights & Permissions [Opens in a new window]

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.

Method:

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.

Conclusion:

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.

Keywords

AlkaptonuriaOchronosisHomogentisic AcidOtolaryngologyEarNasal Septum

Information

Type
Main Articles
Information
The Journal of Laryngology & Otology , Volume 129 , Issue 10 , October 2015 , pp. 1004 - 1008
Copyright
Copyright © JLO (1984) Limited 2015 

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

Article purchase

Temporarily unavailable

References

1Ranganath, RL, Cox, TF. Natural history of alkaptonuria revisited: analyses based on scoring systems. J Inherit Metab Dis 2011;34:1141–51CrossRefGoogle ScholarPubMed
2Ranganath, LR, Jarvis, JC, Gallagher, JA. Recent advances in management of alkaptonuria (invited review; best practice article). J Clin Pathol 2013;66:367–73CrossRefGoogle ScholarPubMed
3Perry, MB, Suwannarat, P, Furst, GP, Gahl, WA, Gerber, LH. Musculoskeletal findings and disability in alkaptonuria. J Rheumatol 2006;33:2280–5Google ScholarPubMed
4Turiansky, GW, Levin, SW. Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria. Int J Dermatol 2001;40:333–5CrossRefGoogle ScholarPubMed
5Phornphutkul, C, Introne, WJ, Perry, MB, Bernardini, I, Murphey, MD, Fitzpatrick, DL et al. Natural history of alkaptonuria. N Engl J Med 2002;347:2111–21CrossRefGoogle ScholarPubMed
6Helliwell, TR, Gallagher, JA, Ranganath, L. Alkaptonuria--a review of surgical and autopsy pathology. Histopathology 2008;53:503–12CrossRefGoogle ScholarPubMed
7Srsen, S. Dark pigmentation of ear cerumen in alkaptonuria. Lancet 1978;2:577CrossRefGoogle ScholarPubMed
8Sanji, RR, Reddy, KE, Channegowda, C. Alkaptonuria: otolaryngologic clues to diagnosis. Indian J Otol 2011;17:22–5CrossRefGoogle Scholar
9Sagit, M, Uludag, M, San, I. An unusual dark pigmentation on the tympanic membrane. J Laryngol Otol 2011;125:1059–61CrossRefGoogle ScholarPubMed
10Pau, HW. Involvement of the tympanic membrane and ear ossicle system in ochronotic alkaptonuria [in German]. Laryngol Rhinol Otol (Stuttg) 1984;63:541–4CrossRefGoogle ScholarPubMed
11British Society of Audiology. Pure-tone Air-conduction and Bone-conduction Threshold Audiometry with and without Masking. Reading: BSA, 2011Google Scholar
12Garrod, AE. A contribution to the study of alkaptonuria. Med Chir Trans 1899;82:367–94CrossRefGoogle Scholar
13Garrod, AE. Inborn Errors of Metabolism. London: Henry Frowde, 1909Google Scholar
14Cruickshanks, KJ, Wiley, TL, Tweed, TS, Klein, BE, Klein, R, Mares-Perlman, JA et al. Prevalence of hearing loss in older adults in Beaver Dam, Wisconsin. The Epidemiology of Hearing Loss Study. Am J Epidemiol 1998;148:879–86CrossRefGoogle ScholarPubMed