Ochronosis, arthroscopy of a black knee: a case report and review of the literature

Raaijmaakers, Martijn; Steenbrugge, Franky; Dierickx, Carl

doi:10.1007/s00167-007-0413-x

Cited by 26 publications

(32 citation statements)

References 7 publications

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“…Literatürde diz artroskopisi ile tanı konulan ve tedavisine başlanan çok az okronozis olgusu bulunmaktadır (1,8,12,16). Bizim olgumuzda da tanı diz artroskopisi ile konuldu.…”

Section: Discussionunclassified

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Artroskopik olarak tanı konulan bir okronozis olgusu

Korkmaz¹,

Şener²,

Öztürk³

et al. 2017

Bakirkoy

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O kronozis bağ dokusunun kahverengi-siyah pigmentasyonu ile karakterize, 250000 doğumda bir görülen otozomal resesif geçişli metabolik hastalıktır. Alkaptonü-ride konnektif dokuların yeşil-kahverengi-siyah bir renk aldığını tarif eden Virchow tarafından bulunmuştur (1,2). Fenilalanin ve tirozin metabolizması sırasında gerekli bir enzim olan homogentisik asit oksidazın karaciğer ve böbrek hücrelerinde eksikliği söz konusudur. HGO(homogentisik asit oksidaz) geni kromozom 3'ün uzun kolunda yer alır ve bu genin defekti homogentistik asit'in (HGA) başta kıkırdak olmak üzere çeşitli konnektif dokularda birikmesine ve hastalığın semptomlarına sebep olur (1,3).İdrarın hava ile teması sonrasında renginin koyulaş-ması, yüz ve el derisinde, sklerada, kulak kıkırdaklarında mavi pigmentasyon görülür. Aortik ve kardiak kapak kalsifikasyonu, lomber intervertebral disk mesafesinde daralma ve kalsifikasyon ile diz ve kalçada osteoartroz görülür (4,5).Bu hastalıkta iskelet sistemi tutulum bulguları genellikle 30'lu yaşlardan sonra görülmektedir. Hastalığın tanı-sı klinik olarak vertebralar ve büyük eklemlerde dejeneOlgu Sunumları / Case Reports ÖZET Artroskopik olarak tanı konulan bir okronozis olgusu Okronozis bağ dokusunun kahverengi-siyah pigmentasyonu ile karakterize, 250000 doğumda bir görülen otozomal resesif geçişli metabolik hastalıktır. İdrarın hava ile teması sonrasında renginin koyulaşması, yüz ve el derisinde, sklerada, kulak kıkırdaklarında mavi pigmentasyon görülür. Okronozis de aortik ve kardiak kapak kalsifikasyonu,lomber intervertebral disk mesafesinde daralma ve kalsifikasyon ile diz ve kalça ekleminde osteoartroz görülür. Bu vakada her iki diz ve bel ağrısı şikayeti ile iç hastalıkları kliniğinde takip edilen ve romatizmal hastalık ön tanısı ile antiromatizmal tedavi başlanan, şikayetlerinin geçmemesi nedeniyle çekilen MRI da menisküs yırtığı saptanan hastanın diz artroskopi esnasında menisküslerde ve kıkırdaklarda mavi pigmentasyonlar gözlenmesi üzerine ileri tetkikler yapılarak okronozis tanısı konan hastanın sunumu yapıldı.Anahtar kelimeler: Okronozis, artroskopi, alkaptonuri\tanı, diz eklemi\patoloji ABSTRACT An ochronosis case diagnosed by arthroscopyOchronosis is a metabolic disorder which is characterized by bluish-black discoloration in connective tissue. The incidence of ochronosis is aproximately one in 250000 live births. Ochronosis has an autosomal recesive inheritance. Patients have bluish pigmentation of auricular cartilages, sclera and skin of the hand and face. Urine colour change into dark after exposure to air or substance. Calcification of aortic and cardiac valves, narrowing and calcification( degeneration) in lomber intervertebral disc space and artritis in knee and hip joints may be seen in ochronosis. In this case patient complain of pain in the both knees and waist. Although Patient diagnosed as a raumatologic disorder and treated with medicine his knee symptoms did not relive. Patient send to MRI for further investigation. In MRI menisceal tear was seen. During knee arhroscopy bluish di...

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“…Literatürde diz artroskopisi ile tanı konulan ve tedavisine başlanan çok az okronozis olgusu bulunmaktadır (1,8,12,16). Bizim olgumuzda da tanı diz artroskopisi ile konuldu.…”

Section: Discussionunclassified

“…Okranozisde dejeneratif eklem hastalığı genellikle konservatif olarak tedavi edilir. İlerlemiş olgular sinoviyektomi, artroskopik debridman ve eklem artroplastileri ile tedavi edilir (6)(7)(8).…”

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Artroskopik olarak tanı konulan bir okronozis olgusu

Korkmaz¹,

Şener²,

Öztürk³

et al. 2017

Bakirkoy

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“…Arthropathy is generally treated conservatively but advanced cases may be treated with synovectomy, arthroscopic debridement and arthroplasty 5,13 . Publications in literature about the surgical treatment of affected joints are in the form of case reports.…”

Section: Discussionmentioning

confidence: 99%

Joint replacement associated with ochronosis in three cases, two were siblings

Deveci̇¹,

Çıraklı

Uzun³

et al. 2016

Cumhuriyet Med J

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SUMMARYHomogentisic acid which accumulates due to homogentisic acid oxidase enzyme deficiency causes joint cartilage damage which then, together with ageing causes osteoarthritis. In this paper, the outcomes are evaluated of arthroplasty applied because of ochronosis-related advanced stage osteoarthritis. The study included 6 joints of 3 cases in which ochronosis-related advanced stage osteoarthritis developed and arthroplasty was applied between 2000 and 2015. The cases were 2 males and 1 female with a mean age of 60.0±3.05 years. Osteoarthritis was observed in the knee joint in 2 cases and the hip joint in 1 case. Arthroplasty was applied to all the cases. In a mean follow-up period of 72 months no complications or recurrence were observed. Arthroplasty is an effective treatment method in advanced stage osteoarthritis which has developed as a result of ochronosis-related damage.

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“…The diagnosis of ochronosis is usually made in a middle-aged patient (40s and older) with a triad of degenerative joint disease, ochronotic pigmentation of the sclera and skin and the characteristic urine changes. 3,5,6) The skeletal system is predominantly involved, although other systems, including cardiovascular and urinary systems, may also be affected. The natural history of ochronotic arthropathy is known to be of relentless progression, sometimes rapid, that eventually leads to destruction of the joint.…”

mentioning

confidence: 99%

“…3,5,6) The skeletal system is predominantly involved, although other systems, including cardiovascular and urinary systems, may also be affected. The natural history of ochronotic arthropathy is known to be of relentless progression, sometimes rapid, that eventually leads to destruction of the joint.…”

mentioning

confidence: 99%

Ochronotic Arthropathy: Degenerative and Complex Tear of Black Meniscus

Yoon

Kim

et al. 2014

J Korean Orthop Assoc

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In this report, a case of a black meniscus with underlying ochronosis is described. Further analysis by laboratory findings showed that the patient had underlying alkaptonuria, which was previously undiagnosed. The patient's symptoms showed improvement after arthroscopic treatment.Key words: ochronosis, alkaptonuria, arthroscopy, knee Alkaptonuria (AKU) is a rare hereditary autosomal recessive metabolic disease that has an incidence rate of one in 250,000 to 1,000,000 live births characterized by a defect in the gene coding for homogentisate 1, 2-dioxygenase. The diagnosis of ochronosis is usually made in a middle-aged patient (40s and older) with a triad of degenerative joint disease, ochronotic pigmentation of the sclera and skin and the characteristic urine changes. 3,5,6) The skeletal system is predominantly involved, although other systems, including cardiovascular and urinary systems, may also be affected. The natural history of ochronotic arthropathy is known to be of relentless progression, sometimes rapid, that eventually leads to destruction of the joint. This disease may progress from simple AKU to alkaptonuric ochronosis and finally to ochronotic arthropathy. 6,7) In this report, degenerative and complex tear of black meniscus is presented with knee arthroscopic findings. CASE REPORTA 78-year-old male patient with Korean nationality had suffered constant knee pain for 5 years. The patient complained pain on medial and lateral aspect of knee joint which worsened during pISSN : 1226-2102, eISSN : 2005

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Ochronosis, arthroscopy of a black knee: a case report and review of the literature

Cited by 26 publications

References 7 publications

Artroskopik olarak tanı konulan bir okronozis olgusu

Artroskopik olarak tanı konulan bir okronozis olgusu

Joint replacement associated with ochronosis in three cases, two were siblings

Ochronotic Arthropathy: Degenerative and Complex Tear of Black Meniscus

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