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Blue ears: a clue to diagnosis of alkaptonuria identified via telemedicine consultation

Alkaptonuria is a rare autosomal recessive metabolic disorder with wide systemic involvement including pigment deposition. We present an unusual case diagnosed by an image obtained via telemedicine showing pigment deposition… Click to show full abstract

Alkaptonuria is a rare autosomal recessive metabolic disorder with wide systemic involvement including pigment deposition. We present an unusual case diagnosed by an image obtained via telemedicine showing pigment deposition in the earlobe. We highlight how this clue may allow prompt diagnosis of alkaptonuria and prevent disease progression.

Keywords: diagnosis alkaptonuria; ears clue; via telemedicine; blue ears

Journal Title: Clinical and Experimental Dermatology
Year Published: 2022

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