1/12. 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 = black (Clic here for more details about this article) |
2/12. 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 = 2keywords = black (Clic here for more details about this article) |
3/12. 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 = 1keywords = black (Clic here for more details about this article) |
4/12. 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 = 2keywords = black (Clic here for more details about this article) |
5/12. A case of alcaptonuria with fatal cardiovascular disturbance.A case of alcaptonuria combined with aortic insufficiency was found in a 28-year-old male. The patient was palpitating at admission. The daily excretion of homogentisic acid was 2.0-6.0 g. electrocardiography indicated atrial fibrillation and left ventricular hypertrophy with a ST-T change and right axis deviation. Cartilage tissues in the knee-joints showed no pigmentation. Vertebral X-ray revealed no calcification. The patient's history disclosed a family intermarriage in his grandparents. The patient's mother noticed the presence of black stains on diapers in his infancy and brown pigmentation on the skin and sclera in childhood. No kin had similar symptoms.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
6/12. alkaptonuria and ochronosis: case report and review.alkaptonuria is a rare genetic disorder in which the enzyme homogentisic acid oxidase is deficient, resulting in the accumulation of homogentisic acid in various bodily tissues. This is a multisystem disorder with a characteristic blue-black discoloration of the skin and cartilage, which is termed ochronosis. Herein we report a profound case of ochronosis secondary to alkaptonuria. Furthermore, we review the clinical manifestations of alkaptonuria and discuss the spectrum of ochronosis, both endogenous and exogenous.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
7/12. Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large joints. Less common manifestations include cardiovascular abnormalities, renal, urethral and prostate calculi. Bone fractures are unusual in ochronosis. In this report, we describe a woman, 69 years of age, with a history of dark urine since childhood and progressive pigmentation of the skin, sclera, and auricular cartilages. She had severe arthropathy requiring total joint replacement in both of her knees and right hip. She also had severe aortic stenosis requiring valve replacement, and asymptomatic nephrolithiasis. She presented with a low trauma fracture of the distal femur despite two years of alendroate therapy. We review the etiology, pathogenesis, clinical presentation, diagnosis and treatment of alkaptonuric ochronosis. Early detection is important for prevention and treatment of multiple systems. Nitisinone, a potent inhibitor of 4-hydroxyphenylpyruvate dioxygenase, dramatically reduces production and urinary excretion of homogentisic acid; however, the long-term efficacy and side effects of such therapy are unknown. Identifying the gene for alkaptonuria offers the potential for a new therapeutic approach (replacement therapy with a recombinant enzyme) in the treatment of alkaptonuric ochronosis.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
8/12. alkaptonuria diagnosed by flexible bronchoscopy.A 68-year-old white man was evaluated for failure to wean from mechanical ventilation after cardiac surgery. bronchoscopy performed prior to percutaneous dilatational tracheotomy revealed circumferential strikingly dark-colored airways, most prominent in the trachea and mainstem bronchi, extending distally into all airways with overlying desiccated black secretions. Histologic examination of bronchial mucosal biopsy samples and the desiccated secretions showed acute bronchitis and necrotic debris, respectively. This finding and the patient's history led to testing for plasma homogentisic acid, which was found to be elevated at 12.6 mug/mL, establishing the first diagnosis of alkaptonuria made using flexible bronchoscopy.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
9/12. 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.- - - - - - - - - - ranking = 2keywords = black (Clic here for more details about this article) |
10/12. Ocular ochronosis from alkaptonuria.alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent accumulation of homogentisic acid in collagenous tissues, such as the sclera, nose and ear lobes. The blue-black pigmentation found in patients with alkaptonuria is called ochronosis. Another ocular sign includes amber-colored oil globulation within Bowmans membrane of the cornea.- - - - - - - - - - ranking = 1keywords = black (Clic here for more details about this article) |
| | Next -> |