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Spine
Diagnosis
Congenital
Genetic Disorders
Ochronosis
Ochronosis
Kevin R. Moore, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Synonyms

                • Alkaptonuria, alcaptonuria

              • Definitions

                • Ochronosis: Absence of homogentisic acid oxidase enzyme → abnormal black tissue pigmentation
                • Alkaptonuria: Detection of homogentisic acid in urine

              IMAGING

              • General Features

                • Radiographic Findings

                  • Imaging Recommendations

                    • CT Findings

                      • MR Findings

                        DIFFERENTIAL DIAGNOSIS

                          PATHOLOGY

                          • General Features

                            • Gross Pathologic & Surgical Features

                              • Microscopic Features

                                CLINICAL ISSUES

                                • Presentation

                                  • Demographics

                                    • Natural History & Prognosis

                                      • Treatment

                                        DIAGNOSTIC CHECKLIST

                                        • Consider

                                          Selected References

                                          1. Zatkova A et al: Alkaptonuria: current perspectives. Appl Clin Genet. 13:37-47, 2020
                                          2. Rahimizadeh A et al: Symptomatic pseudarthrosis in ochronotic spine: case report. J Neurosurg Spine. 26(2):220-8, 2017
                                          3. Gil JA et al: Orthopedic Manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med. 129(5):536.e1-6, 2016
                                          4. Harun M et al: A rare cause of arthropathy: an ochronotic patient with black joints. Int J Surg Case Rep. 5(8):554-7, 2014
                                          5. Lal M et al: Alkaptonuric ochronosis. Orthopedics. 37(12):e1141-9, 2014
                                          6. Kahveci R et al: Alkaptonuric patient presenting with "black" disc: a case report. Acta Orthop Traumatol Turc. 47(2):134-8, 2013
                                          7. Palazzi C et al: Ochronotic arthropathy of the spine limited to the thoracic section. Rheumatology (Oxford). 52(5):799, 2013
                                          8. Sag AA et al: T1 hyperintense disc in alkaptonuria. Spine (Phila Pa 1976). 37(21):E1361-3, 2012
                                          9. Effelsberg NM et al: A metabolic cause of spinal deformity. Metabolism. 59(1):140-3, 2010
                                          10. Akeda K et al: Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976). 33(2):E62-5, 2008
                                          11. Madsen OR et al: [Ochronotic spondylarthropathy.] Ugeskr Laeger. 170(48):3961-2, 2008
                                          12. Capkin E et al: Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature. Rheumatol Int. 28(1):61-4, 2007
                                          13. Kalevski SK et al: Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J. 7(4):495-8, 2007
                                          14. Bayindir P et al: Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol. 25(4):588-90, 2006
                                          15. Gürkanlar D et al: Ochronosis and lumbar disc herniation. Acta Neurochir (Wien). 148(8):891-4; discussion 894, 2006
                                          16. Sharma A et al: Lower-back pain, intervertebral-disc calcification and scleral pigmentation. Med J Aust. 184(12):643, 2006
                                          17. Perrone A et al: Radiographic and MRI findings in ochronosis. Radiol Med. 110(4):349-58, 2005
                                          18. Farzannia A et al: Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg. 98(1 Suppl):87-9, 2003
                                          19. Introne WJ et al: Alkaptonuria. GeneReviews [Internet]. (In Pagon RA et al, updated July 2009), 2003
                                          20. Nas K et al: Ochronosis: a case of severe ochronotic arthropathy. Clin Rheumatol. 21(2):170-2, 2002
                                          21. Phornphutkul C et al: Natural history of alkaptonuria. N Engl J Med. 347(26):2111-21, 2002
                                          22. Choudhury R et al: A case of ochronosis: MRI of the lumbar spine. Neuroradiology. 42(12):905-7, 2000
                                          23. Ryan SJ et al: Magnetic resonance imaging in ochronosis, a rare cause of back pain. J Neuroimaging. 4(1):41-2, 1994
                                          Related Anatomy
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                                          Related Differential Diagnoses
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                                          References
                                          Tables

                                          Tables

                                          KEY FACTS

                                          • Terminology

                                            • Imaging

                                              • Top Differential Diagnoses

                                                • Pathology

                                                  • Clinical Issues

                                                    • Diagnostic Checklist

                                                      TERMINOLOGY

                                                      • Synonyms

                                                        • Alkaptonuria, alcaptonuria

                                                      • Definitions

                                                        • Ochronosis: Absence of homogentisic acid oxidase enzyme → abnormal black tissue pigmentation
                                                        • Alkaptonuria: Detection of homogentisic acid in urine

                                                      IMAGING

                                                      • General Features

                                                        • Radiographic Findings

                                                          • Imaging Recommendations

                                                            • CT Findings

                                                              • MR Findings

                                                                DIFFERENTIAL DIAGNOSIS

                                                                  PATHOLOGY

                                                                  • General Features

                                                                    • Gross Pathologic & Surgical Features

                                                                      • Microscopic Features

                                                                        CLINICAL ISSUES

                                                                        • Presentation

                                                                          • Demographics

                                                                            • Natural History & Prognosis

                                                                              • Treatment

                                                                                DIAGNOSTIC CHECKLIST

                                                                                • Consider

                                                                                  Selected References

                                                                                  1. Zatkova A et al: Alkaptonuria: current perspectives. Appl Clin Genet. 13:37-47, 2020
                                                                                  2. Rahimizadeh A et al: Symptomatic pseudarthrosis in ochronotic spine: case report. J Neurosurg Spine. 26(2):220-8, 2017
                                                                                  3. Gil JA et al: Orthopedic Manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med. 129(5):536.e1-6, 2016
                                                                                  4. Harun M et al: A rare cause of arthropathy: an ochronotic patient with black joints. Int J Surg Case Rep. 5(8):554-7, 2014
                                                                                  5. Lal M et al: Alkaptonuric ochronosis. Orthopedics. 37(12):e1141-9, 2014
                                                                                  6. Kahveci R et al: Alkaptonuric patient presenting with "black" disc: a case report. Acta Orthop Traumatol Turc. 47(2):134-8, 2013
                                                                                  7. Palazzi C et al: Ochronotic arthropathy of the spine limited to the thoracic section. Rheumatology (Oxford). 52(5):799, 2013
                                                                                  8. Sag AA et al: T1 hyperintense disc in alkaptonuria. Spine (Phila Pa 1976). 37(21):E1361-3, 2012
                                                                                  9. Effelsberg NM et al: A metabolic cause of spinal deformity. Metabolism. 59(1):140-3, 2010
                                                                                  10. Akeda K et al: Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976). 33(2):E62-5, 2008
                                                                                  11. Madsen OR et al: [Ochronotic spondylarthropathy.] Ugeskr Laeger. 170(48):3961-2, 2008
                                                                                  12. Capkin E et al: Ochronosis in differential diagnosis of patients with chronic backache: a review of the literature. Rheumatol Int. 28(1):61-4, 2007
                                                                                  13. Kalevski SK et al: Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J. 7(4):495-8, 2007
                                                                                  14. Bayindir P et al: Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol. 25(4):588-90, 2006
                                                                                  15. Gürkanlar D et al: Ochronosis and lumbar disc herniation. Acta Neurochir (Wien). 148(8):891-4; discussion 894, 2006
                                                                                  16. Sharma A et al: Lower-back pain, intervertebral-disc calcification and scleral pigmentation. Med J Aust. 184(12):643, 2006
                                                                                  17. Perrone A et al: Radiographic and MRI findings in ochronosis. Radiol Med. 110(4):349-58, 2005
                                                                                  18. Farzannia A et al: Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg. 98(1 Suppl):87-9, 2003
                                                                                  19. Introne WJ et al: Alkaptonuria. GeneReviews [Internet]. (In Pagon RA et al, updated July 2009), 2003
                                                                                  20. Nas K et al: Ochronosis: a case of severe ochronotic arthropathy. Clin Rheumatol. 21(2):170-2, 2002
                                                                                  21. Phornphutkul C et al: Natural history of alkaptonuria. N Engl J Med. 347(26):2111-21, 2002
                                                                                  22. Choudhury R et al: A case of ochronosis: MRI of the lumbar spine. Neuroradiology. 42(12):905-7, 2000
                                                                                  23. Ryan SJ et al: Magnetic resonance imaging in ochronosis, a rare cause of back pain. J Neuroimaging. 4(1):41-2, 1994