Feeling Blue? It Might Just be Alkaptonuria.

Aim: Report a case of alkaptonuria diagnosed following consultation with an otolaryngologist. Background: Alkaptonuria is a rare genetic disorder with an autosomal recessive inheritance pattern that leads to an increase in homogentisic acid (HGA). Our aim is to raise awareness about the otolaryngology manifestations of the disease and the treatment of this disease. Case description: A 75-year-old woman presented to an ear, nose, and throat (ENT) consultation with a history of progressive bilateral hearing loss and tinnitus. She had a history of joint pain and morning stiffness, which had previously been attributed to osteoarthritis. Physical examination revealed hyperpigmentation of the conchae, sclerae, and both hands. Laboratory tests showed significantly elevated levels of HGA in her urine, leading to a diagnosis of alkaptonuria. Conclusion and clinical significance: Alkaptonuria is a rare genetic disorder that can present with a variety of symptoms, including joint and cardiovascular problems. This case highlights the significance of recognizing unusual symptoms, such as blue discoloration of the ears, as potential indicators of alkaptonuria. [ABSTRACT FROM AUTHOR]