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At least 73 records · Page 4Linked to original sources

Alkaptonuric ochronosis: report of two affected brothers.

Alkaptonuric ochronosis is a rare inborn metabolic disorder. Because of the deficient activity of the enzyme homogentisic acid oxidase, homogentisic acid accumulates in plasma, is deposited in various tissues and is excreted in large amounts in urine. Dark brown discoloration of urine on exposure to air or after addition of alkaline solution is characteristic. We describe two brothers with typical alkaptonuric ochronosis with dark urine, blue pigmentation of auricles and axillae, focal brown hyperpigmentation of sclerae, and anthropathy.

Ear Diseases↗

Cardiac manifestations of ochronosis.

A 68-year-old woman with ochronosis was admitted with congestive heart failure. A typical ejection murmur of aortic stenosis was ausculated and was documented on a phonocardiogram. The patient subsequently died, and at autopsy extensive deposition of ochronotic pigment was found on the aortic valve. This valve had no other anatomic abnormalities. Thus ochronosis should be considered in the differential diagnosis of aortic stenosis.

Aged↗

CLINICAL AND PATHOLOGICAL FINDINGS IN OCHRONOSIS.

A case of ochronosis with far-advanced cardiovascular, skeletal, and prostatic manifestations is reported. An attempt is made to correlate the location of pigment with other pathological changes in this disorder. A brief discussion of the hereditary factors, the metabolic pathways of homogentisic acid, and the pathogenesis of ochronosis is presented.

Journal Article↗

Low back pain and ochronosis.

We have examined the presentation of low back pain in three patients with ochronosis, and have reviewed the literature. Low back pain and/or stiffness is the first presenting feature and usually appears after the age of 30. Discolouration of the ear is almost always present. Characteristic radiographic changes in the lumbar spine include calcification of the intervertebral discs and lucencies in the discs. The process gradually extends to the entire spine.

Back Pain↗

Coexistence of ochronosis and rheumatoid arthritis.

We describe a 64-year-old female patient with ochronosis and rheumatoid arthritis. Magnetic resonance imaging of the spinal column disclosed the destruction of vertebral disks, and a bony bridging in Th12 to L2. In addition, we observed joint space narrowing in the wrists as well as among the carpal bones, positive rheumatoid factor and the presence of rheumatoid nodules, in which the histological findings were compatible with those of rheumatoid arthritis. The co-existence of these two diseases has not yet been previously reported. Pre-existing ochronotic arthropathy might have masked the manifestation of rheumatoid arthritis and made the diagnosis of rheumatoid arthritis rather difficult.

Arthritis, Rheumatoid↗

The "whisker sign" as an indicator of ochronosis in skeletal scintigraphy.

A patient with alkaptonuria and ochronotic arthrosis was imaged twice with technetium-99m dicarboxypropane diphosphonate (99mTc-DPD)--once during a bout of arthritic knee pain and once when symptom-free. There was a marked accumulation of radioactivity in the large joints. During the episode of arthritis the knee joints had a higher uptake than when the patient was without symptoms. The intervertebral discs showed a high uptake which extended laterally from the axial vertebral column; the finding gave an impression of whiskers, and this "whisker sign" may be characteristic of ochronosis.

Alkaptonuria↗

A morphological study of bone and articular cartilage in ochronosis.

An ochronotic femoral head has been studied morphologically under the light and the electron microscope. Its articular cartilage showed the alterations already reported in the literature, mainly consisting of erosions of the surface, pigment accumulation in chondrocytes and intercellular matrix, chondrocyte degeneration, the formation of pigmented, calcified and uncalcified microshards, and the presence of granulation tissue with macrophagic cells. The changes in bone were less severe than those in cartilage. Pigment was present in the calcified matrix. This did not seem to disturb the organization of the bone tissue, although it was diffusely osteoporotic, perhaps because of limb disuse. The preservation of calcified matrix might depend on the fact that its collagen fibrils are encrusted by mineral substance, which avoids the dangerous effects that the deposition of ochronotic pigment induces in the fibrils of soft connective tissues. On the other hand, the newly formed osteoid matrix remains uncalcified for too short a time to be modified by the pigment. Diffuse or granular pigmentation was found in a few osteocytes, while several of them were condensed or reduced to cellular fragments. Bone resorption often occurred near these osteocytes. However, this did not seem to alter the degree of bone remodelling, possibly because of the relatively low numbers of degenerated or dead osteocytes. Pigment was also contained in the cytoplasmic vacuoles of otherwise active osteoclasts, whereas it was not found in osteoblasts. On the whole, ochronosis in bone seems to induce the same changes as in other connective tissues. However, their severity appears to be limited by calcification, which prevents modifications in collagen fibrils, and by bone remodelling, which to some extent eliminates the oldest, pigment-richest parts of the tissue.

Bone Resorption↗

Ochronosis and lumbar disc herniation.

Alkaptonuria is a rare, autosomal recessive metabolic disorder in which the homogentisic acid oxidase activity is absent. Its incidence is as low as 0.001%. Ochronosis is the pigmentation of connective tissues and this pigmentation leads to degenerative changes in alkaptonuric patients. Alkaptonuria most prominently involves the lumbar region, but lumbar disc herniation as the presenting feature of alkaptonuria is not common. Only a few patients required surgical intervention. Herewith we report an alkaptonuric patient, who was operated on for lumbar disc herniation. His discectomy material was black and the metabolic disorder was diagnosed retrospectively. This metabolic disease is often recognized on physical re-examination after the black disc material was seen during the operation. Therefore urinalysis for homogentisic acid should be performed in all patients with degenerative changes of the vertebral column. The results of disc surgery in this patient group is successful.

Alkaptonuria↗

Renal, vesical, and prostatic calculi associated with ochronosis.

A case report of a patient with ochronosis and simultaneously occurring renal, vesical, and prostatic calculi is presented. Literature review suggests an increased incidence of urinary calculi in this syndrome, yet stone composition in such cases is not remarkable.

Calculi↗

Ochronosis of prostate presenting as advanced carcinoma.

Ochronosis is the clinical manifestation of alkaptonuria, a rare inborn error of metabolism. It is characterized by widespread pigmentation of the fibroconnective tissues, arthritis, and passage of dark urine. Prostatic involvement is usually limited to the incidental finding of calculi within the gland. Herein, we report a case of diffuse ochronotic involvement of the prostate clinically presenting as a neoplasm.

Biopsy, Needle↗

Probable coexisting exogenous ochronosis and mercurial pigmentation managed by dermabrasion.

A patient with blue-gray discoloration of the face is described. Her history revealed that she had used bleaching creams containing mercury and hydroquinone for many years. Biopsy specimens of the hyperpigmented areas showed deposits that were compatible with both mercury deposition and the diagnosis of exogenous ochronosis. Dermabrasion was successfully employed to remove these deposits.

Aged↗

Ocular ochronosis: A case report and clinical findings.

PURPOSE: To report a rare case of bilateral asymmetrical melanin-like pigments found in the cornea, conjunctiva and sclera. METHODS: Systemic investigation with clinical and laboratory analysis. RESULTS: The case was diagnosed as one of alkaptonuria and ocular ochronosis.

Alkaptonuria↗

Alkaptonuric ochronosis presenting as palmoplantar pigmentation.

We describe a 37-year-old woman who presented with palmoplantar pigmentation, thickening and pitting of 4 years duration. Bluish pigmented patches were seen over the sclera of her eyes. Her lumbar spine showed typical calcification of the intervertebral discs. Addition of Benedict's reagent to a urine sample of the patient gave rise to greenish brown precipitate and brownish black supernatant. Alkalinization of urine turned it black. A biopsy of the palmar lesion demonstrated irregular breaking up, swelling and homogenization of collagen bundles in the reticular dermis. Yellow-brown (ochre coloured) pigment was seen lying within the collagen bundles and also freely in the deeper dermis confirming our clinical diagnosis of alkaptonuric ochronosis. To the best of our knowledge this is probably the second report of alkaptonuria presenting with palmoplantar pigmentation.

Adult↗

[A case report: ochronosis in combination with chondrocalcinosis].

We report the case of a 70 year old female patient suffering from Cox- and Gonarthrosis, a massive loss of function of the whole vertebral spine caused by a combination of Ochronosis and Chondrocalcinosis. The patient's anamnesis, the clinical findings and the pathology with the possible clinical manifestations are being described with a review on the existing literature.

Aged↗

Annular granulomatous lesions in exogenous ochronosis are manifestation of sarcoidosis.

Annular lesions with histological changes that include a sarcoidal granulomatous reaction have been observed within hydroquinone-induced ochronotic changes in some patients. The clinical and histological similarity of these lesions to actinic granuloma has been reported previously. We describe six patients with annular granulomatous lesions located within the ochronotic areas. Three of them had evidence of systemic sarcoidosis. A comparison of the histological features of the annular lesions of this group with those of the three patients with only cutaneous sarcoidal changes showed only insignificant quantitative differences. We conclude that annular granulomatous lesions in patients with exogenous ochronosis is a form of sarcoidosis.

Adult↗

Hyperlipidemias, lipid storage disorders, metal storage disorders, and ochronosis.

This review presents up-to-date information on many unusual causes of musculoskeletal disorders. These disorders are grouped together because in each there is abnormal accumulation of normal materials or accumulation of abnormal materials in cells or interstitial tissues. Most of these conditions or their associated musculoskeletal manifestations are rare. However, they may present to the adult or pediatric rheumatologist for diagnosis or therapy or both. Gout, because of its prevalence, has been excluded from this review, but it is included briefly in the discussion of the specific arthritides associated with hyperlipidemias. Disorders associated with abnormal lipid storage in which bone and joint pathology occur frequently include Gaucher's disease, histiocytosis-X, and multicentric reticulohistiocytosis. The rarer disorders of this type discussed are Fabry's disease, sea-blue histiocytosis, and Farber's disease. The abnormal accumulation of metal ions in hemochromatosis and in Wilson's disease are probably causative, either directly or indirectly, in the musculoskeletal features of these diseases, while in ochronosis, calcium crystal deposition accompanies the cartilage degradation characteristic of this disease.

Humans↗

Pigmented coalescing papules on the dorsa of the hands: pigmented colloid milium associated with exogenous ochronosis.

Colloid milium is a rare cutaneous deposition disorder that frequently occurs in areas of chronic sun exposure such as the face, neck and backs of the hands and is characterized by multiple small, discrete, usually amber-colored, dome-shaped papules that cluster to form large plaques. A 50-year-old white woman with esophageal squamous cell carcinoma was referred to us with asymptomatic, slowly spreading lesions localized to the dorsa of her hands which had been present for 4 years. The condition was diagnosed histopathologically as pigmented colloid milium associated with exogenous ochronosis (EO). Colloid milium associated with EO is very rarely reported in the published work. We think that a possible interaction between sunlight and exposure to chemical fertilizers may have played a role in the pathogenesis of both of the disorders in our case.

Carcinoma, Squamous Cell↗