link
Bookmarks
(0)
Spine
Diagnosis
Congenital
Genetic Disorders
Ochronosis
Ochronosis
Kevin R. Moore, MD
To access 4,300 diagnoses written by the world's leading experts in radiology, please log in or subscribe.
Log in
Subscribe
0
4
5
0
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
Zatkova A et al: Alkaptonuria: current perspectives. Appl Clin Genet. 13:37-47, 2020
Rahimizadeh A et al: Symptomatic pseudarthrosis in ochronotic spine: case report. J Neurosurg Spine. 26(2):220-8, 2017
Gil JA et al: Orthopedic Manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med. 129(5):536.e1-6, 2016
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
Lal M et al: Alkaptonuric ochronosis. Orthopedics. 37(12):e1141-9, 2014
Kahveci R et al: Alkaptonuric patient presenting with "black" disc: a case report. Acta Orthop Traumatol Turc. 47(2):134-8, 2013
Palazzi C et al: Ochronotic arthropathy of the spine limited to the thoracic section. Rheumatology (Oxford). 52(5):799, 2013
Sag AA et al: T1 hyperintense disc in alkaptonuria. Spine (Phila Pa 1976). 37(21):E1361-3, 2012
Effelsberg NM et al: A metabolic cause of spinal deformity. Metabolism. 59(1):140-3, 2010
Akeda K et al: Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976). 33(2):E62-5, 2008
Madsen OR et al: [Ochronotic spondylarthropathy.] Ugeskr Laeger. 170(48):3961-2, 2008
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
Kalevski SK et al: Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J. 7(4):495-8, 2007
Bayindir P et al: Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol. 25(4):588-90, 2006
Gürkanlar D et al: Ochronosis and lumbar disc herniation. Acta Neurochir (Wien). 148(8):891-4; discussion 894, 2006
Sharma A et al: Lower-back pain, intervertebral-disc calcification and scleral pigmentation. Med J Aust. 184(12):643, 2006
Perrone A et al: Radiographic and MRI findings in ochronosis. Radiol Med. 110(4):349-58, 2005
Farzannia A et al: Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg. 98(1 Suppl):87-9, 2003
Introne WJ et al: Alkaptonuria. GeneReviews [Internet]. (In Pagon RA et al, updated July 2009), 2003
Nas K et al: Ochronosis: a case of severe ochronotic arthropathy. Clin Rheumatol. 21(2):170-2, 2002
Phornphutkul C et al: Natural history of alkaptonuria. N Engl J Med. 347(26):2111-21, 2002
Choudhury R et al: A case of ochronosis: MRI of the lumbar spine. Neuroradiology. 42(12):905-7, 2000
Ryan SJ et al: Magnetic resonance imaging in ochronosis, a rare cause of back pain. J Neuroimaging. 4(1):41-2, 1994
Related Anatomy
Loading...
Related Differential Diagnoses
Loading...
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
Zatkova A et al: Alkaptonuria: current perspectives. Appl Clin Genet. 13:37-47, 2020
Rahimizadeh A et al: Symptomatic pseudarthrosis in ochronotic spine: case report. J Neurosurg Spine. 26(2):220-8, 2017
Gil JA et al: Orthopedic Manifestations of ochronosis: pathophysiology, presentation, diagnosis, and management. Am J Med. 129(5):536.e1-6, 2016
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
Lal M et al: Alkaptonuric ochronosis. Orthopedics. 37(12):e1141-9, 2014
Kahveci R et al: Alkaptonuric patient presenting with "black" disc: a case report. Acta Orthop Traumatol Turc. 47(2):134-8, 2013
Palazzi C et al: Ochronotic arthropathy of the spine limited to the thoracic section. Rheumatology (Oxford). 52(5):799, 2013
Sag AA et al: T1 hyperintense disc in alkaptonuria. Spine (Phila Pa 1976). 37(21):E1361-3, 2012
Effelsberg NM et al: A metabolic cause of spinal deformity. Metabolism. 59(1):140-3, 2010
Akeda K et al: Thoracic myelopathy with alkaptonuria. Spine (Phila Pa 1976). 33(2):E62-5, 2008
Madsen OR et al: [Ochronotic spondylarthropathy.] Ugeskr Laeger. 170(48):3961-2, 2008
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
Kalevski SK et al: Alcaptonuria with lumbar disc prolapse: case study and review of the literature. Spine J. 7(4):495-8, 2007
Bayindir P et al: Radiologic features of lumbar spine in ochronosis in late stages. Clin Rheumatol. 25(4):588-90, 2006
Gürkanlar D et al: Ochronosis and lumbar disc herniation. Acta Neurochir (Wien). 148(8):891-4; discussion 894, 2006
Sharma A et al: Lower-back pain, intervertebral-disc calcification and scleral pigmentation. Med J Aust. 184(12):643, 2006
Perrone A et al: Radiographic and MRI findings in ochronosis. Radiol Med. 110(4):349-58, 2005
Farzannia A et al: Alkaptonuria and lumbar disc herniation. Report of three cases. J Neurosurg. 98(1 Suppl):87-9, 2003
Introne WJ et al: Alkaptonuria. GeneReviews [Internet]. (In Pagon RA et al, updated July 2009), 2003
Nas K et al: Ochronosis: a case of severe ochronotic arthropathy. Clin Rheumatol. 21(2):170-2, 2002
Phornphutkul C et al: Natural history of alkaptonuria. N Engl J Med. 347(26):2111-21, 2002
Choudhury R et al: A case of ochronosis: MRI of the lumbar spine. Neuroradiology. 42(12):905-7, 2000
Ryan SJ et al: Magnetic resonance imaging in ochronosis, a rare cause of back pain. J Neuroimaging. 4(1):41-2, 1994
STATdx includes over 200,000 searchable images, including x-ray, CT, MR and ultrasound images. To access all images, please log in or subscribe.
Log in
Subscribe