Skip to main content
SpringerLink
Log in

New developments in ochronosis: review of the literature

  • Review
  • Published:
Rheumatology International Aims and scope Submit manuscript

Abstract

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.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

Similar content being viewed by others

References

  1. Selvi E, Manganelli S, Benucci M, Marcolongo R (2000) Chronic ochronotic arthritis: clinical, arthroscopic and pathologic findings. J Rheumatol 27:2272–4

    CAS  PubMed  Google Scholar 

  2. Sahin G, Milcan A, Bagis S, Kokturk A, Pata C, Erdogan C (2001) A case of ochronosis: upper extremity involvement. Rheumatol Int 21:78–80

    Article  CAS  PubMed  Google Scholar 

  3. Kumar RV, Rajasekaran S (2003) Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br 85:883–6

    PubMed  Google Scholar 

  4. Farzannia A, Shokouhi G, Hadidchi S (2003) Alkaptonuria and lumbar disc herniation. J Neurosurg (Spine 1) 98:87–9

    Google Scholar 

  5. Hamdi N, Cooke TDV, Hassan B (1999) Ochronotic arthropathy: case report and review of the literature. Int Orthop 23:122–5

    Article  CAS  PubMed  Google Scholar 

  6. Laskar FH, Sargison KD (1970) Ochronotic arthropathy: a review with four case reports. J Bone Joint Surg Br 52:653–65

    CAS  PubMed  Google Scholar 

  7. Ellaway CJ, Holme E, Standing S, Preece MA, Green A, Ploechl E et al (2001) Outcome of tyrosinemia type III. J Inher Metab Dis 24:824–32

    Article  CAS  PubMed  Google Scholar 

  8. La Du B (2002) Alkaptonuria. In: Royce RM, Steinman B (eds) Connective tissue and its heritable disorders: molecular, genetic and medical aspects. Second edn. Wiley-Liss, New York, pp 809–825

  9. Aydogdu S, Cullu E, Ozsoy MH, Sur H (2000) Cementless total knee arthroplasty in ochronotic arthropathy: a case report with 4-year follow-up. J Arthroplasty 15:539–43

    Article  CAS  PubMed  Google Scholar 

  10. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL et al (2002) Natural history of alkaptonuria. N Engl J Med 347:2111–21

    Article  CAS  PubMed  Google Scholar 

  11. Nas K, Gur A, Akdeniz S, Cevik R, Harman M, Sarac AJ (2002) Ochronosis: a case of severe ochronotic arthropathy. Clin Rheumatol 21:170–2

    Article  CAS  PubMed  Google Scholar 

  12. Alrehaily A, Pope JE (2002) Alkaptonuria with atypical joint involvement. J Rheumatol 29:198–9

    PubMed  Google Scholar 

  13. MacKenzie CR, Major P, Hunter T (1982) Tendon involvement in a case of ochronosis. J Rheumatol 9:634–6

    CAS  PubMed  Google Scholar 

  14. Seradge H (1981) Ochronotic stenosing flexor tenosynovitis. J Hand Surg 6:359–60

    CAS  Google Scholar 

  15. Uyguner O, Goicoechea de Jorge E, Cefle A, Baykal T, Kayserili H, Cefle K, Demirkol M, Yuksel-Apak M, Rodriguez de Cordoba S, Wollnik B (2003) Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58 fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations. J Inherit Metab Dis 26:17–23

    Article  CAS  PubMed  Google Scholar 

  16. Zatkova A, Chmelikova A, Polakova H, Ferakova E, Kadasi L (2003) Rapid detection methods for five HGO gene mutations causing alkaptonuria. Clin Genet 63:145–9

    CAS  PubMed  Google Scholar 

  17. Aliberti G, Pulignano I, Schiappoli A, Minisola S, Romagnoli E, Proietta M (2003) Bone metabolism in ochronotic patients. J Int Med 254:296–300

    Article  CAS  Google Scholar 

  18. Borman P, Bodur H, Ciliz D (2002) Ochronotic arthropathy. Rheumatol Int 21:205–9

    Article  PubMed  Google Scholar 

  19. Carrier DA, Harris CM (1990) Bilateral hip and bilateral knee arthroplasties in a patient with ochronotic arthropathy. Orthop Rev 19:1005–9

    CAS  PubMed  Google Scholar 

  20. Suzuki Y, Oda K, Yoshikawa Y, Maeda T, Suzuki T (1999) A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria. J Hum Genet 44:79–84

    Article  CAS  PubMed  Google Scholar 

  21. Lock EA, Ellis MK, Gaskin P, Robinson M, Auton TR, Provan WM et al (1998) From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTMC), its toxicology and development as a drug. J Inher Metab Dis 21:498–506

    Article  CAS  PubMed  Google Scholar 

  22. Beighton P (1993) Alkaptonuria. McKusick’s heritable disorders of connective tissue. Fourth edn. Mosby, St. Louis, pp 315–30

Download references

Author information

Authors and Affiliations

  1. Department of Orthopedic Surgery, Columbia University Medical Center, New York, NY, USA

    Julie M. Keller, William Macaulay & Ohannes A. Nercessian

  2. Division of Rheumatology, Columbia University Medical Center, New York, NY, USA

    Israeli A. Jaffe

  3. Center for Hip and Knee Replacement, 622 West 168 Street, PH1146, New York, NY 10032, USA

    William Macaulay

Authors
  1. Julie M. Keller
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. William Macaulay
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ohannes A. Nercessian
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Israeli A. Jaffe
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to William Macaulay.

Additional information

No grants or industrial support were received for this investigation

Rights and permissions

Reprints and permissions

About this article

Cite this article

Keller, J.M., Macaulay, W., Nercessian, O.A. et al. New developments in ochronosis: review of the literature. Rheumatol Int 25, 81–85 (2005). https://doi.org/10.1007/s00296-004-0498-1

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00296-004-0498-1

Keywords

Search

Navigation