1/33. 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.- - - - - - - - - - ranking = 1keywords = ochronosis (Clic here for more details about this article) |
2/33. alkaptonuria with lumbar disc herniation: a report of two cases.STUDY DESIGN: Two cases of lumbar disc herniation with alkaptonuria are presented. OBJECTIVES: To present a probable clinical course of lumbar disc herniation with alkaptonuria, a rare metabolic disease. SUMMARY OF BACKGROUND DATA: Although lumbar disc disease is a common clinical occurrence in alkaptonuria, lumbar disc surgery is needed rarely in this disease. A patient with alkaptonuria without ochronotic signs is also rarely seen. methods: The cause, clinical presentation, diagnostic techniques and treatment of alkaptonuria with lumbar disc disease are reviewed. RESULTS: The symptoms of the patients disappeared after surgery, and there were no symptoms on follow-up. CONCLUSION: alkaptonuria frequently occurs in association with lumbar disc disease. In patients with no other signs of alkaptonuria or ochronosis, early detection of the disease is important to treat involvement of other systems (e.g., cardiovascular and urinary).- - - - - - - - - - ranking = 0.5keywords = ochronosis (Clic here for more details about this article) |
3/33. 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.- - - - - - - - - - ranking = 2.5keywords = ochronosis (Clic here for more details about this article) |
4/33. dura mater involvement in ochronosis (alkaptonuria).Clinical manifestations of alkaptonuria have been well described and are most commonly characterized by ochronosis or pigmentation of connective tissue. Sites most commonly involved in ochronosis include joints, heart, skin, and kidney. We describe a 66-year-old woman with a history of alkaptonuria who had widespread ochronosis. The dura mater showed extensive pigment deposition, which was evident both grossly and microscopically at autopsy. To our knowledge, description of dura mater involvement by ochronosis has not been previously reported in the literature.- - - - - - - - - - ranking = 4keywords = ochronosis (Clic here for more details about this article) |
5/33. aortic valve stenosis in alkaptonuric ochronosis.alkaptonuria is a rare genetic disorder of tyrosine metabolism in which a bluish pigment accumulates in the connective tissues throughout the body, and causes degenerative changes. The most common clinical manifestation of ochronosis is arthropathy. heart valves may also be affected, though cardiac involvement is rare. The present patient has cardiac ochronosis, and has several family members diagnosed with ochronosis and aortic valve stenosis.- - - - - - - - - - ranking = 3.5keywords = ochronosis (Clic here for more details about this article) |
6/33. 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.- - - - - - - - - - ranking = 2.5keywords = ochronosis (Clic here for more details about this article) |
7/33. ochronosis: a case of severe ochronotic arthropathy.ochronosis involves primarily the large cartilaginous joint surfaces, ribs, intervertebral discs, ear cartilage etc. We report on a 53-year-old woman with typical alkaptonuric ochronosis with dark urine, blue-black pigmentation of the auriculae and hands, focal brown hyperpigmentation of the sclera, spondylarthropathy and severe shoulder joint involvement.- - - - - - - - - - ranking = 0.5keywords = ochronosis (Clic here for more details about this article) |
8/33. Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation.In alkaptonuria, homogentisate 1,2-dioxygenase deficiency causes tissue accumulation of homogentisic acid (HGA), followed by signs and symptoms of ochronosis. These include massive urinary excretion of HGA, arthritis and joint destruction, pigmentation of cartilage and connective tissue, and cardiac valve deterioration. We describe a 46-year-old man with alkaptonuria and diabetic renal failure whose plasma HGA concentration was twice that of any other alkaptonuria patient, and whose ochronosis progressed much more rapidly than that of his two alkaptonuric siblings. After renal transplantation, the plasma HGA normalized, and the daily urinary excretion of HGA decreased by 2-3g. This case illustrates the critical role of renal tubular secretion in eliminating HGA from the body, and suggests that renal transplantation in a uremic patient not only restores HGA excretion, but may also provide homogentisate 1,2-dioxygenase activity for the metabolism of HGA.- - - - - - - - - - ranking = 3keywords = ochronosis (Clic here for more details about this article) |
9/33. alkaptonuria and lumbar disc herniation. Report of three cases.alkaptonuria is a rare metabolic disease caused by deficiency of homogentisic acid oxidase and characterized by bluish-black discoloration of cartilages and skin (ochronosis). The authors report the cases of three patients with lumbar disc herniation who underwent discectomy and in whom the nucleus pulposus was discovered to be black. alkaptonuria was diagnosed after discectomy. Discal herniation requiring surgery is unusual in alkaptonuria, with only a few reports. The symptoms in the three patients disappeared after surgery and no symptoms were demonstrated on follow-up examination.- - - - - - - - - - ranking = 0.5keywords = ochronosis (Clic here for more details about this article) |
10/33. Multiple vacuum discs, and early sign of ochronosis. Radiologic findings in two brothers.Two brothers with ochronosis are reported and the radiological features of ochronotic vertebral disease are reviewed. A striking feature was the presence of multiple vacuum discs. This "vacuum phenomenon" constitutes one of the earliest radiologic changes in the spine and presumably represents areas of severe degeneration within the intervertebral discs. Other features included a dark pigmentation of the urine after standing or following the addition of sodium hydroxide, and calcification within the cartilages of the ears and intervertebral discs. There was no abnormality of the peripheral joints and pigmentary deposits in the ears, sclerae, or skin were not observed.- - - - - - - - - - ranking = 2.5keywords = ochronosis (Clic here for more details about this article) |
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