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An unusual dark pigmentation on the tympanic membrane
1Department of Otorhinolaryngology-Head and Neck Surgery, Kayseri Training and Research Hospital, Sanliurfa, Turkey. musagit@yahoo.com
The Journal of Laryngology and Otology
|August 6, 2011
Summary
Alkaptonuria, a rare genetic disorder, can cause dark tympanic membrane pigmentation and hearing loss. This case highlights the importance of considering alkaptonuria in patients with these symptoms.
Area of Science:
- Otorhinolaryngology
- Medical Genetics
Background:
- Alkaptonuria (AKU) is a rare inherited metabolic disorder.
- Characterized by deficiency of homogentisate 1,2-dioxygenase.
- Leads to accumulation of homogentisic acid and ochronosis.
Observation:
- A 58-year-old male patient with diagnosed alkaptonuria presented with tinnitus and bilateral hearing loss.
- Physical examination revealed bluish-black pigmentation on ear helixes and sclerae.
- Otoscopy showed dark discoloration of tympanic membranes.
Findings:
- Audiological evaluation indicated bilateral mixed high-frequency hearing loss.
- Tympanometry revealed type A tympanograms and absent acoustic reflexes.
- Temporal bone CT scans showed no structural abnormalities.
Implications:
- This case suggests a potential association between alkaptonuria and tympanic membrane pigmentation.
- Highlights the need for clinicians to include alkaptonuria in the differential diagnosis.
- Emphasizes the importance of otological evaluation in patients with alkaptonuria.
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