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Literature DB >> 15322814

New developments in ochronosis: review of the literature.

Julie M Keller¹, William Macaulay, Ohannes A Nercessian, Israeli A Jaffe.

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.

Entities: Chemical Disease

Mesh：

Substances：

Year: 2004 PMID： 15322814 DOI： 10.1007/s00296-004-0498-1

Source DB: PubMed Journal: Rheumatol Int ISSN： 0172-8172 Impact factor: 2.631

20 in total

1. Ochronotic stenosing flexor tenosynovitis--case report.

Authors: H Seradge
Journal: J Hand Surg Am Date: 1981-07 Impact factor: 2.230

2. Tendon involvement in a case of ochronosis.

Authors: C R MacKenzie; P Major; T Hunter
Journal: J Rheumatol Date: 1982 Jul-Aug Impact factor: 4.666

3. A novel therapeutic trial of homogentisic aciduria in a murine model of alkaptonuria.

Authors: Y Suzuki; K Oda; Y Yoshikawa; Y Maeda; T Suzuki
Journal: J Hum Genet Date: 1999 Impact factor: 3.172

Review 4. From toxicological problem to therapeutic use: the discovery of the mode of action of 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-cyclohexanedione (NTBC), its toxicology and development as a drug.

Authors: E A Lock; M K Ellis; P Gaskin; M Robinson; T R Auton; W M Provan; L L Smith; M P Prisbylla; L C Mutter; D L Lee
Journal: J Inherit Metab Dis Date: 1998-08 Impact factor: 4.982

5. Bone metabolism in ochronotic patients.

Authors: G Aliberti; I Pulignano; A Schiappoli; S Minisola; E Romagnoli; M Proietta
Journal: J Intern Med Date: 2003-09 Impact factor: 8.989

6. Spontaneous tendon ruptures in alkaptonuria.

Authors: R V Manoj Kumar; S Rajasekaran
Journal: J Bone Joint Surg Br Date: 2003-08

7. Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.

Authors: O Uyguner; E Goicoechea de Jorge; A Cefle; T Baykal; H Kayserili; K Cefle; M Demirkol; M Yuksel-Apak; S Rodriguez de Córdoba; B Wollnik
Journal: J Inherit Metab Dis Date: 2003 Impact factor: 4.982

8. Alkaptonuria and lumbar disc herniation. Report of three cases.

Authors: Akbar Farzannia; Ghaffar Shokouhi; Shahram Hadidchi
Journal: J Neurosurg Date: 2003-01 Impact factor: 5.115

9. Rapid detection methods for five HGO gene mutations causing alkaptonuria.

Authors: A Zatkova; A Chmelikova; H Polakova; E Ferakova; L Kadasi
Journal: Clin Genet Date: 2003-02 Impact factor: 4.438

10. Natural history of alkaptonuria.

Authors: Chanika Phornphutkul; Wendy J Introne; Monique B Perry; Isa Bernardini; Mark D Murphey; Diana L Fitzpatrick; Paul D Anderson; Marjan Huizing; Yair Anikster; Lynn H Gerber; William A Gahl
Journal: N Engl J Med Date: 2002-12-26 Impact factor: 91.245

31 in total

1. The Distribution of Ochronosis in Osteoarthritic Articular Cartilage in a Knee.

Authors: Vincent W Vigorita; Paul D Marino; Paul A Lucas
Journal: HSS J Date: 2015-10-15

2. An Unusual Case of Facial Hyperpigmentation Solved on Histopathology.

Authors: Kiran Agarwal; Vandana Puri; Ruchika Kumar Goel; Deepti Verma
Journal: J Clin Diagn Res Date: 2016-09-01

3. Analysis of HGD Gene Mutations in Patients with Alkaptonuria from the United Kingdom: Identification of Novel Mutations.

Authors: Jeannette L Usher; David B Ascher; Douglas E V Pires; Anna M Milan; Tom L Blundell; Lakshminarayan R Ranganath
Journal: JIMD Rep Date: 2015-02-15

8. Ochronosis of the knee with secondary osteoarthritis requiring total knee replacement in a patient with cryptogenic organising pneumonia.

Authors: Jorrit Jasper; Wieneke Metsaars; Joris Jansen
Journal: BMJ Case Rep Date: 2016-05-20

9. Cerebro-spinal and renal ochronosis: A rare case report.

Authors: Sunil Kumar Nanda; D R Suresh; A Vamseedhar; K Pratibha; B Arjun
Journal: Indian J Clin Biochem Date: 2010-05-27

10. Ochronosis of hip joint; a case report.

Authors: Babak Siavashi; Mohammad J Zehtab; Ehsan Pendar
Journal: Cases J Date: 2009-12-16