Skip to main content

Advertisement

SpringerLink
Log in

Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review

  • Case Report
  • Published:
MUSCULOSKELETAL SURGERY Aims and scope Submit manuscript

Abstract

Alkaptonuria is a rare hereditary metabolic disease of autosomal recessive inheritance, resulting from deficiency of the enzyme homogentisic acid oxidase. The term “alkaptonuria” was first used in 1859 by Boedeker to describe a patient’s urinary reducing compound, and in 1866, Virchow coined the term “ochronosis” due to typical yellow pigmentation. Deposition of this pigment in articular cartilage leads to ochronotic arthropathy, the most incapacitating complication of alkaptonuria. We report a rare case of shoulder ochronotic arthritis, treated with total shoulder arthroplasty, achieving a successful long-term clinical and radiological outcomes.

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
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7

References

  1. Boedeker (1859) Ueber das Alkapton, Ztschr. f. rat. Med. 7: 130(1)

  2. Archibald AE (1902) The incidence of alkaptonuria: a study in chemical individuality. Lancet 2:1616–1920

    Google Scholar 

  3. Scriver CR (2008) Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Error of Metabolism’: albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008. J Inherit Metab Dis 31(5):580–598

    Article  PubMed  Google Scholar 

  4. La Du BN, Zannoni VG, Laster L, Seegmiller JE (1958) The nature of the defect in tyrosine metabolism in alcaptonuria. J Biol Chem 230:251–260

    Google Scholar 

  5. Fernández-Cañón JM, Granadino B, Beltrán-Valero de Bernabé D, Renedo M, Fernández-Ruiz E, Peñalva MA, Rodríguez de Córdoba S (1996) The molecular basis of alkaptonuria. Nat Genet 14:19–24

    Article  PubMed  Google Scholar 

  6. Tan SK (2010) Exogenous ochronosis—a diagnostic challenge. J Cosmet Dermatol 9:313–317

    Article  PubMed  Google Scholar 

  7. Constant CR, Murley AH (1987) A clinical method of functional assessment of the shoulder. Clin Orthop Relat Res 214:160–164

    PubMed  Google Scholar 

  8. Lippitt S, Harryman D II, Matsen FA III (1993) A practical tool for evaluating shoulder function: the Simple Shoulder Test. In: Matsen FA III, Fu F, Hawkins RJ (eds) The shoulder: a balance of mobility and stability. American Academy of Orthopaedic Surgeons, Rosemont, pp 501–518

    Google Scholar 

  9. Harrold AJ (1956) Alkaptonuric arthritis. J Bone Joint Surg Br 38:532–538

    PubMed  Google Scholar 

  10. Hamdi N, Cooke TD, Hassan B (1999) Ochronotic arthropathy: case report and review of the literature. Int Orthop 23:122–125 (Review)

    Google Scholar 

  11. Yoshikai M, Murayama J, Yamada N (2004) Aortic valve regurgitation in alkaptonuria. J Heart Valve Dis 13:863–865

    PubMed  Google Scholar 

  12. Laskar FH, Sargison KD (1970) Ochronotic arthropathy. A review with four case reports. J Bone Joint Surg Br 52:653–666

    PubMed  CAS  Google Scholar 

  13. Di Franco M, Coari G, Bonucci E (2000) A morphological study of bone and articular cartilage in ochronosis. Virchows Arch 436:74–81

    Article  PubMed  Google Scholar 

  14. Perrone A, Impara L, Bruni A, Primicerio P, Marini M (2005) Radiographic and MRI findings in ochronosis. Radiol Med 110:349–358

    PubMed  Google Scholar 

  15. Suwannarat P, O’Brien K, Perry MB, Sebring N, Bernardini I, Kaiser-Kupfer MI, Rubin BI, Tsilou E, Gerber LH, Gahl WA (2005) Use of nitisinone in patients with alkaptonuria. Metabolism 54:719–728

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  17. Thacker M, Garude S, Puri A (2003) Ochronotic arthropathy: arthroscopic findings in the shoulder and the knee. Arthroscopy 19:E14–E17

    PubMed  Google Scholar 

  18. Castagna A, Giombini A, Vinanti G, Massazza G, Pigozzi F (2006) Arthroscopic treatment of shoulder ochronotic arthropathy: a case report and review of literature. Knee Surg Sports Traumatol Arthrosc 14:176–181

    Article  PubMed  CAS  Google Scholar 

  19. Azhar A, Khan R, Smyth H (2007) Ochronotic arthritis. Int J Shoulder Surg 1:77–80

    Article  Google Scholar 

  20. Spencer JM, Gibbons CL, Sharp RJ, Carr AJ, Athanasou NA (2004) Arthroplasty for ochronotic arthritis: no failure of 11 replacements in 3 patients followed 6–12 years. Acta Orthop Scand 75:355–358

    Article  PubMed  Google Scholar 

  21. Moslavac A, Moslavac S, Cop R (2003) Case report of a patient with ochronosis and arthroplasty of the hip and both knees. Reumatizam 50:26–28

    PubMed  Google Scholar 

  22. Carrier DA, Harris CM (1990) Bilateral hip and bilateral knee arthroplasties in a patient with ochronotic arthropathy. Orthop Rev 19:1005–1009

    PubMed  CAS  Google Scholar 

  23. Araki K, Sudo A, Hasegawa M, Uchida A (2009) Devastating ochronotic arthropathy with successful bilateral hip and knee arthroplasties. J Clin Rheumatol 15:138–140

    Article  PubMed  Google Scholar 

  24. Demir S (2003) Alkaptonuric ochronosis: a case with multiple joint replacement arthroplasties. Clin Rheumatol 22:437–439

    Article  PubMed  Google Scholar 

  25. Kruithof E, Baeten D, Veys EM, De Keyser F, Suykens S, De Wilde L, Verdonk R (2004) Case Number 29: ochronosis: synovial histopathological characteristics. Ann Rheum Dis 63:130

    Article  PubMed  CAS  Google Scholar 

  26. Gaines JJ (1989) The pathology of alkaptonuric ochronosis. Hum Pathol 20: 40–46 (Review. Erratum in: Hum Pathol 1989;20:500)

    Google Scholar 

  27. Manoj Kumar RV, Rajasekaran S (2003) Spontaneous tendon ruptures in alkaptonuria. J Bone Joint Surg Br 85:883–886

    PubMed  CAS  Google Scholar 

  28. MacKenzie CR, Major P, Hunter T (1982) Tendon involvement in a case of ochronosis. J Rheumatol 9:634–636

    PubMed  CAS  Google Scholar 

Download references

Conflict of interest

None.

Author information

Authors and Affiliations

  1. Unit of Shoulder and Elbow Surgery, D. Cervesi Hospital, Via L. Van Beethoven 1, 47841, Cattolica (RN), Italy

    Giovanni Merolla, Arpit C. Dave, Francesco Pegreffi & Giuseppe Porcellini

  2. Rheumatology Unit, Policlinico Universitario, Modena, Italy

    Lorenza Belletti

Authors
  1. Giovanni Merolla
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Arpit C. Dave
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Francesco Pegreffi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Lorenza Belletti
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Giuseppe Porcellini
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Giovanni Merolla.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Merolla, G., Dave, A.C., Pegreffi, F. et al. Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review. Musculoskelet Surg 96 (Suppl 1), 93–99 (2012). https://doi.org/10.1007/s12306-012-0184-5

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s12306-012-0184-5

Keywords

Search

Navigation