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[The ochronosis disease picture and conservative and operative therapy. Presented in relation to a case report].

Ochronosis leads very early, already in the fourth decade, to osteoarthritic alterations, mainly of the large joints. As the treatment has to be symptomatic, joint prosthesis is often inevitable. We report about a case history of a patient with coxarthrosis and basic alterations by ochronosis. In spite of a bone structure similar those of osteomalacia, we were able to implant a cementless total hip prosthesis in the left hip joint.

Cartilage, Articular↗

Ochronotic arthropathy. A comparative scanning electron microscopic and light microscopic study of the synovium in ochronosis.

The synovium in two cases of ochronosis was studied by scanning electron microscopy and light microscopy. Several features not yet described were seen by scanning electron microscopic examination and correlated with the light microscopic findings. This is the first report in the English language literature comparing scanning electron microscopic findings with the light microscopic findings in ochronosis.

Adult↗

Familial ochronosis.

We report the case of a 72-year-old female with alkaptonuric ochronosis and symptomatic aortic stenosis requiring aortic valve replacement. She was the seventh of nine children, and four of the nine siblings were diagnosed as having ochronosis. Only one, however presented with aortic stenosis.

Aged↗

Bilateral achilles tendon ruptures in a patient with ochronosis: a case report.

We report the case of a 67-year-old man with ochronosis who had bilateral Achilles tendon ruptures. We reconstructed the Achilles tendon using pull-out wiring for the right side and an anchoring system for the left side, and reinforced the repair site using the peroneus brevis tendon for both sides. He could walk without a cane at 3 months postoperatively. Tendon ruptures in patients with ochronosis should be treated as pathologic ruptures because histologic examination reveals that both ends of the ruptured tendon and the insertion site at the calcaneus have extensive black pigment depositions where homogentisic acid and its metabolites have accumulated, and there are no normal collagen bundles present. Even if an Achilles tendon rupture is clinically diagnosed as an acute injury, the ruptured Achilles tendon should be primarily repaired and reinforced with autologous tissue because there are a few viable cells at the ruptured site, and because the tendon ruptures mainly at the insertion site of the calcaneus. Although this is a preliminary report, the short-term result is good and the reconstructed sites have showed no rerupture.

Achilles Tendon↗

Magnetic resonance imaging in ochronosis, a rare cause of back pain.

A 34-year-old man had progressive, poorly controlled low back pain for 3 years before testing confirmed a diagnosis of ochronosis. This is the first case description of the magnetic resonance imaging (MRI) appearance of spinal ochronosis, which should be considered when advanced degenerative change is seen on spinal MRI in young individuals.

Adult↗

[Ochronosis--an autopsy case report].

The authors have presented a case of ochronosis, as the incidental finding during the autopsy of a female patient, aged 59 years. It was the case of suicidal drug poisoning. Ochronosis is a rare disease, with chronic benign course, but frequently followed by complications. Histopathological criteria for the diagnosis of this disease are described in detail.

Diazepam↗

Aortic stenosis in endogenous ochronosis.

Endogenous ochronosis, a rare inherited disease of tyrosine metabolism, is caused by a deficiency of the enzyme, homogentisic acid oxidase, and may lead to cardiovascular involvement seen most frequently as aortic valve stenosis. We report the case of a patient with generalized ochronosis who developed cardiovascular symptoms due to aortic valve stenosis and who underwent aortic valve replacement.

Aged↗

Ochronosis: an unusual finding at aortic valve replacement.

The condition known as ochronosis refers to the accumulation of oxidized homogentisic acid in the connective tissues of alkaptonuric patients. The diagnosis is usually made from the triad of degenerative arthritis, ochronotic connective tissue pigmentation and urine that turns dark brown or black on alkalinization. Cardiovascular disease is a less well appreciated aspect of this disorder. A patient with ochronosis of his stenotic aortic valve is reported. The role of the pigment in the genesis of the valve degeneration is discussed.

Alkaptonuria↗

[Alkaptonuria with ochronosis and monoclonal gammopathy].

A case of alkaptonuria with ochronosis is described. It is suggested that such cases are not so much rare as unobserved. Their aetiology is to be sought in a metabolic error, though the pathogenesis is not clear. The syndrome is of interest because ochronosis, wich is the articular manifestation, is one of the few rheumatological affections with a certain aetiology. The case described is unusual on account of the presence of monoclonal gammopathy. Since the presence of myeloma and macroglobulinaemia could be excluded, an immunological relation was sought between the alkaptonuria and the particular serological picture.

Adult↗

[A case of diagnosis of knee joint ochronosis in bone tuberculosis hospital].

The author presents a case of knee joint ochronosis or alcaptonuric osteoarthrosis, which is rarely encountered in clinical practice. The pathogenesis of the disease is attributable to the acculation of homogentisic acid derivatives in the body. There is a great similarity of clinical and X-ray manifestations of ochronosis and tuberculous arthritis.

Aged↗

[Ankylosis of the spine in a case with ochronosis].

A thirty-nine-year-old man presented with a complaint of low back pain with a history of 20 years. Cervical and thoracolumbar radiographs showed wide calcification areas and ankylosis in the intervertebral discs. Observation of blue-gray pigmentation around his nose and ears suggested a diagnosis of ochronosis, which was confirmed by the detection of high levels of homogentisic acid in the urine and dark urine color following alkalization. Ochronosis should be included in the differential diagnosis in patients with chronic low back pain, calcified intervertebral discs, and black pigmentation in cartilagenous and collagenous tissues.

Adult↗

Spine fracture in ochronosis. Report of a case.

Ochronosis, the musculoskeletal manifestation of alkaptonuria, primarily involves the larger joints of the body, including the spine. Ankylosis of the thoracolumbar spine leads to progressive loss of flexibility. The case described is that of a 72-year-old man with ochronosis who suffered a hyperextension injury to his spine in a fall, resulting in a fracture through an ankylosed L2-L3 disk space. To the authors' knowledge, this is the first reported fracture of an ankylosed ochronotic spine.

Aged↗

Exogenous ochronosis.

Exogenous ochronosis is a condition characterized by hyperpigmentation of the face secondary to the use of hydroquinone-containing bleaching creams. Histopathologically, it presents a collection of yellowish-brown (ochronotic) globules in the papillary dermis. Two cases of exogenous ochronosis are reported, followed by a review of the literature.

Adult↗

Exogenous ochronosis in a Mexican-American woman.

Exogenous ochronosis resulting from the topical application of hydroquinone-containing bleaching creams has been reported to occur almost exclusively in black subjects, and only after use of high concentrations of hydroquinone (greater than 3 percent) for many years. A Mexican-American patient is described who experienced exogenous ochronosis after using 2 percent hydroquinone cream for less than six months.

Adult↗

Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.

Patients with alkaptonuria lack homogentisate 1,2-dioxygenase leading to retention of homogentistic acid (HGA) in body fluids and eventually to tissue deposition of oxidation products, giving rise to the clinical picture of ochronosis. Ascorbic acid is a known inhibitor of the enzyme which catalyses the oxidation of homogentisic acid (HGA) to the polymer with affinity for collagen and was used in the treatment of three siblings with alkaptonuria. Ascorbic acid 500 mg bid was administered for 12 months. Two of the siblings tolerated the treatment, and in one the symptoms improved, whereas in the other they worsened. Plasma and urinary levels of HGA were monitored with a new HPLC method. Ascorbic acid is not effective in the treatment of symptomatic ochronosis.

Alkaptonuria↗

Alkaptonuria with extensive ochronosis.

A 59-year-old woman with previously documented alkaptonuria was examined for extensive ochronosis of recent onset. The cause of the extensive skin pigmentations were thought to be secondary to decreased renal clearance of homogentisic acid because of a decline in the patient's renal function. If extensive or rapidly progressive skin pigmentation is noted in a patient with alkaptonuria, then evaluation of the patient's renal status should be done because unrelated renal disease has been reported in patients with severe ochronosis.

Alkaptonuria↗

[Joint effusion findings in alkaptonuric arthropathy (ochronosis)].

Findings are presented within the synovial effusion of a 55-year-old man with numerous, macroscopically visible, brownish-blackish rods of a length from 3 to 5 mm. The combined cytologic as well as histologic results of synovial fluid investigations, including the investigation of a synovial fibrin clot, led to the diagnosis of ochronosis. Similar findings were described previously two times only. The morphologic diagnosis ochronosis was proved to be well founded by the subsequent investigation of the patient's urine. Hints are also given for diagnosis of ochronotic synovial effusions.

Cartilage, Articular↗