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      Black Bone Disease: Ochronotic Arthritis Detected during Knee Arthroplasty

      case-report

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          Abstract

          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.

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          Arthroplasty for ochronotic arthritis: no failure of 11 replacements in 3 patients followed 6-12 years.

          N Athanasou, Norman J. Carr, Frank R. Sharp … (2004)
          Alkaptonuria is a rare single-gene disorder characterized by black pigmentation of cartilage and other connective tissues. Premature degenerative arthritis affects the large joints in many of these of patients. Medical treatment is limited to a protein-restricted diet (phenylalanine and tyrosine) with surgery reserved for end-stage joint disease. As in other metabolic bone diseases, there are concerns about the quality and strength of affected bones and therefore the suitability and longevity of replacement arthroplasty. The histopathology and outcome of joint replacement for alkaptonuric arthritis is unknown and limited to sporadic case reports. We describe 11 joint replacements in 3 patients with alkaptonuric polyarthropathy, including shoulder and elbow replacements not previously reported. No prosthetic failures occurred in up to 12 years of follow-up. Total joint replacement is an acceptable treatment for degenerative joint disease in alkaptonuric patients, with implant survival comparable to that found in patients with osteoarthritis.
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            New developments in ochronosis: review of the literature.

            J. Keller, O A Nercessian, Laurinda Jaffe … (2005)
            Ochronosis commonly affects all connective tissue. Recognition of changes secondary to the deposition of ochronotic pigments has increased with advances in diagnostic technology, allowing both improved imaging and early biochemical and genetics-based diagnosis of alkaptonuria, the cause of ochronosis. Successful symptomatic treatment of ochronotic arthropathy with joint replacement has been documented, and a new pharmacotherapeutic agent, nitisinone, is currently under investigation for both prevention and treatment of ochronosis. This review of the literature highlights recently recognized complications, new diagnostic techniques, and treatment options.
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              Ochronotic arthropathy: case report and review of the literature.

              N Hamdi, T D Cooke, B B Hassan (1999)
              Alkoptonuria is an inherited metabolic disorder which is associated with various systemic abnormalities and related to the deposition of homogentisic acid pigment in connective tissues. These pigmentary changes are termed "ochronosis". We describe two patients with ochronotic arthropathy who presented with progressive and advanced degenerative changes in the lumbo-sacral spine. The literature, differential diagnosis and management of this rare condition are reviewed in this article. Management is usually conservative, but replacement surgery may be offered for severely affected major joints.
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                Author and article information

                Journal
                Journal ID (nlm-ta): J Bone Metab
                Journal ID (iso-abbrev): J Bone Metab
                Title: Journal of Bone Metabolism
                Publisher: The Korean Society for Bone and Mineral Research
                ISSN (Print): 2287-6375
                ISSN (Electronic): 2287-7029
                Publication date (Print): August 2023
                Publication date (Electronic): 31 August 2023
                Volume: 30
                Issue: 3
                Pages: 283-287
                Affiliations
                [1 ]Department of Orthopedic Surgery, Ewha Womans University, College of Medicine, Mokdong Hospital, Seoul, Korea
                [2 ]Department of Orthopedic Surgery, Ulsan Hospital, Ulsan, Korea
                Author notes
                Corresponding author: Ho Won Kang, Department of Orthopedic Surgery, Ewha Womans University, College of Medicine, Mokdong Hospital, 1071 Anyangcheon-ro, Yangcheon-gu, Seoul 07985, Korea, Tel: +82-2-2650-2535, Fax: +82-2-2642-0349, E-mail: kangho-1@ 123456hanmail.net
                Author information
                https://orcid.org/0000-0002-0792-9045
                https://orcid.org/0009-0004-1136-3963
                https://orcid.org/0000-0002-2597-0076
                https://orcid.org/0000-0001-5002-6768
                Article
                Publisher ID: jbm-2023-30-3-283
                DOI: 10.11005/jbm.2023.30.3.283
                PMC ID: 10509029
                PubMed ID: 37718906
                SO-VID: 4afc5044-dc49-4280-9107-67f4c768f14a
                Copyright © Copyright © 2023 The Korean Society for Bone and Mineral Research
                License:

                This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License ( https://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 12 June 2023
                Date revision received : 13 July 2023
                Date accepted : 16 July 2023
                Categories
                Subject: Case Report

                Keywords: arthroplasty,knee,ochronosis,alkaptonuria,arthritis
                Data availability:
                Keywords: arthroplasty, knee, ochronosis, alkaptonuria, arthritis

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