Azhar Armughan, Khan Reshad, Smyth Hugh
Department of Orthopedic Surgery, The Adelaide and Meath Hospital, Dublin, Incorporating The National Children’s Hospital, Tallaght, Dublin 24, Ireland
Correspondence Address: Azhar Armughan Department of Orthopedic Surgery, The Adelaide and Meath Hospital, Dublin, Incorporating The National Children’s Hospital, Tallaght, Dublin 24 Ireland
Alkaptonuria is a rare inherited autosomal recessive metabolic disorder, caused by the deficiency of homogentisate 1, 2 dioxygenase enzyme. The three major features of alkaptonuria are the presence of homogentisic acid in the urine, ochronosis (bluish-black pigmentation in connective tissue) and arthritis of the spine and large joints. In this report, we describe a 48-year-old female who presented with advanced arthritic degenerative changes in her both shoulders and benefited from bilateral shoulder resurfacing. The bilateral shoulder resurfacing has not been reported in the literature before. The literature, clinical, radiological and histological features along with differential diagnosis and management of this rare condition are reviewed in this article.
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