BACKGROUND: @entity9360 is an @entity2246 . It is a multisystem disease with characteristic ENT manifestations. This paper reports, for the first time, the ENT findings in a cohort of @entity9360 @entity1 . METHOD: @entity1 attending the National Centre for @entity9360 (Royal Liverpool and Broadgreen University Hospitals NHS Trust) underwent a full ENT assessment. RESULTS: Eighteen of the 20 @entity1 (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 @entity1 is needed to clarify if an association exists between @entity9360 and @entity393 . @entity9360 is a condition that could present to the otolaryngologist. Successful early diagnosis and referral to a specialist centre is essential so that @entity1 can be offered disease-modifying therapy.

ENT manifestations of XXXX : report on a case series.

@entity1 :: ('9606', 'Species') :: ['Patients', 'patients'] @entity393 :: ('MESH:D034381', 'Disease') :: ['hearing loss'] @entity9360 :: ('MESH:D000474', 'Disease') :: ['Alkaptonuria', 'alkaptonuria'] @entity2246 :: ('MESH:D008661', 'Disease') :: ['inborn error of metabolism']
@entity9360 :: (MESH:D000474,Disease) :: ['alkaptonuria']
