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.

Patients attending the National Centre for Alkaptonuria (Royal Liverpool and Broadgreen University Hospitals NHS Trust) underwent a full ENT assessment.

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.

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.

To report an extremely rare case of dark pigmentation on the tympanic membrane due to alkaptonuria, and to discuss the probable association between this condition and hearing loss.

A 58-year-old man with alkaptonuria was admitted with tinnitus and hearing loss in both ears. Physical examination showed bluish-black pigmentation on the helixes of both ears and both sclerae. Otoscopic examination revealed dark discolouration of both tympanic membranes. Audiological evaluation revealed mixed high frequency hearing loss in both ears. Tympanometric examination revealed type A tympanograms bilaterally, and absence of acoustic reflexes both ipsilaterally and contralaterally. Computed tomography of the temporal bones revealed no abnormality.

Clinicians should consider alkaptonuria in the differential diagnosis of patients with abnormal tympanic membrane pigmentation and hearing loss.