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Alkaptonuria is an extremely rare autosomal recessive metabolic disorder characterized by dark urine, ochronosis, and arthritis of the spine and major joints. We report a case of ochronotic arthritis observed during total knee replacement surgery in a 65-year-old male patient with no relevant medical history. Based on a literature review, this is the first case of ochronotic arthritis reported in Korea.
No potential conflict of interest relevant to this article was reported.
Figures
Fig. 1
Bluish-black pigmentation on the skin…
Fig. 1
Bluish-black pigmentation on the skin is observed.
Fig. 1
Bluish-black pigmentation on the skin is observed.
Fig. 2
Arthritic changes in the right…
Fig. 2
Arthritic changes in the right knee as observed on the pre-operative radiograph (A)…
Fig. 2
Arthritic changes in the right knee as observed on the pre-operative radiograph (A) and T2-weighted magnetic resonance image (B).
Fig. 3
Black discolouration detected in the…
Fig. 3
Black discolouration detected in the subchondral bone (A) and cancellous bone (B).
Fig. 3
Black discolouration detected in the subchondral bone (A) and cancellous bone (B).
Fig. 4
Post-operative anteroposterior and lateral radiographs…
Fig. 4
Post-operative anteroposterior and lateral radiographs of the right knee.
Fig. 4
Post-operative anteroposterior and lateral radiographs of the right knee.
Fig. 5
In alkaptonuria, mutations in the…
Fig. 5
In alkaptonuria, mutations in the gene coding for homogentisic acid dioxygenase cause accumulation…
Fig. 5
In alkaptonuria, mutations in the gene coding for homogentisic acid dioxygenase cause accumulation of homogentisic acid, leading to pigmentation in the connective tissue.
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