Ochronosis is connective tissue manifestation of Alkaptonuria. Joint involvement especially hip and knee destruction is seen. The cartilage is pigmented and destroyed. A 55years old male (Figure 1) with a previous total arthroplasty on both shoulders, has recently develop a hip pain. He was affected of alkaptonuria (AKU). We proceed with a total hip arthroplasty with cement less cup and modular...

Once upon a time The 'one gene, one polypeptide' dictum has an old pedigree. The story starts almos~ as soon as Mendel's laws were re-discovered. In 1902 Archibald E. Garrod l, on the advice of Bateson, interpreted alkaptonuria as a single recessive mendelian trait. Alkaptonuria is a very rare and not terribly serious condition in which a compound called 'alkapton' is excreted in urine. This co...

Background: Alkaptonuria (AKU) or ochronosis is a rare progressive degenerative arthropathy that results from deficiency of enzyme homogentisate 1,2 dioxygenase (HGD). The features include arthritis of the spine and in larger peripheral joints, with chondrocalcinosis. In this paper, we present a case of alkaptonuria in a 54 year old woman in Tehran, Iran. Case Presentation: A 54 year old woman ...

A 46-year-old man of mixed race had been followed up for the past 7 years at our Rheumatology clinic. He was labelled as ‘burnt out’ rheumatoid arthritis with secondary osteoarthritis. Methotrexate had been stopped 5 years ago. His main complaint was chronic lower backache that had been worsening over the past few years. He did not have any symptoms suggestive of an inflammatory arthropathy. Hi...

Finding discolored bone intraoperatively can be confusing and concerning to orthopedic surgeons. Multiple causes of pigmented bone exist, including ochronosis, metabolic bone diseases, metal deposits, sequestrum, metastatic disease, and minocycline use. Bone quality is an important consideration in intraoperative decision making with respect to components and fixation options in total joint art...

OBJECTIVE Alkaptonuria (AKU) is an ultra-rare autosomal recessive disease that currently lacks an appropriate therapy. Recently we provided experimental evidence that AKU is a secondary serum amyloid A (SAA)-based amyloidosis. The aim of the present work was to evaluate the use of antioxidants to inhibit SAA amyloid and pro-inflammatory cytokine release in AKU. METHODS We adopted a human chon...

T he patient, a 43 year old woman with a 35 year history of alkaptonuria (fig 1A), presented to the orthopaedic clinic for pain in the right shoulder. Clinical examination demonstrated an important reduction of shoulder mobility with, on radiographic evaluation, a greatly destroyed joint (fig 1B). The patient was admitted to hospital to obtain a shoulder prosthesis. Ochronosis is a rare autosom...

This update develops the actual therapeutic options in the management of the joint involvement of calcium pyrophosphate deposition disease (CPPD), basic calcium phosphate (BCP) deposition disease, hemochromatosis (HH), ochronosis, oxalosis, and Wilson's disease. Conventional pharmaceutical treatment provides benefits for most diseases. Anti-interleukine-1 (IL-1) treatment could provide similar ...

The development of a specific arthropathy is now a well recognized complication of idiopathic haemochromatosis (Schumacher, 1964; de Seze, Hubault, Kahn, Welfling, Jaffres, Mitrovic, and Solnica, 1966; 'Hamilton, Williams, Barlow, and Smith, 1968); one of the characteristic features found in the majority of affected joints is the presence of calcium pyrophosphate deposits in both hyaline and fi...