Literature DB >> 24478561

Ochronosis of the hip joint: differential diagnosis of inflammatory arthropathy with lytic lesion.

Sudhesna Mohapatra1, Teresa Biswas1, Saswati Das1, Alpana Saxena1.   

Abstract

Alkaptonuria or ochronosis is a rare inborn disorder of metabolism which is characterized by deficiency of homogentisic acid oxidase. There is accumulation of homogentisic acid in the connective tissues causing brownish black pigmentation and skeletal damage. The most serious complication of this disease is crippling degenerative arthropathy which presents in late years of life. There is no definitive treatment for the condition. Symptomatic management is the main stay. Surgical management such as arthroplasty is done for severe cases of ochronosis. We report a case of ochronosis of the hip joint presenting with inflammation and lytic lesion which can create confusion and lead to error in diagnosis.

Entities:  

Keywords:  Alkaptonuria; Hip joint; Lytic lesion; Ochronosis

Year:  2013        PMID: 24478561      PMCID: PMC3903920          DOI: 10.1007/s12291-013-0340-1

Source DB:  PubMed          Journal:  Indian J Clin Biochem        ISSN: 0970-1915


  8 in total

1.  Chronic ochronotic arthritis: clinical, arthroscopic, and pathologic findings.

Authors:  E Selvi; S Manganelli; A Mannoni; M Benucci; C Minacci; R Marcolongo
Journal:  J Rheumatol       Date:  2000-09       Impact factor: 4.666

2.  NTBC and alkaptonuria.

Authors:  Y Anikster; W L Nyhan; W A Gahl
Journal:  Am J Hum Genet       Date:  1998-09       Impact factor: 11.025

Review 3.  Aortic valve ochronosis: a rare manifestation of alkaptonuria.

Authors:  Christina Maria Steger
Journal:  BMJ Case Rep       Date:  2011-07-28

4.  The human gene for alkaptonuria (AKU) maps to chromosome 3q.

Authors:  S Janocha; W Wolz; S Srsen; K Srsnova; X Montagutelli; J L Guénet; T Grimm; W Kress; C R Müller
Journal:  Genomics       Date:  1994-01-01       Impact factor: 5.736

Review 5.  New developments in ochronosis: review of the literature.

Authors:  Julie M Keller; William Macaulay; Ohannes A Nercessian; Israeli A Jaffe
Journal:  Rheumatol Int       Date:  2004-08-21       Impact factor: 2.631

6.  Alkaptonuria, ochronosis, and ochronotic arthropathy.

Authors:  Alessandro Mannoni; Enrico Selvi; Sauro Lorenzini; Massimo Giorgi; Paolo Airó; Daniele Cammelli; Lupo Andreotti; Roberto Marcolongo; Berardino Porfirio
Journal:  Semin Arthritis Rheum       Date:  2004-02       Impact factor: 5.532

7.  Alkaptonuria and intramedullary calcification.

Authors:  S Raina; D M Mahesh; S S Kaushal; D Gupta; D S Dhiman; A Negi; S Sharma
Journal:  J Assoc Physicians India       Date:  2008-07

8.  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

  8 in total

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