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Alkaptonuric ochronosis presenting as palmoplantar pigmentation

Published on Jul 1, 2000in Clinical and Experimental Dermatology1.771
· DOI :10.1046/j.1365-2230.2000.00649.x
M. Vijaikumar6
Estimated H-index: 6
,
Devinder Mohan Thappa24
Estimated H-index: 24
+ 2 AuthorsS. Nadarajan1
Estimated H-index: 1
(JIPMER: Jawaharlal Institute of Postgraduate Medical Education and Research)
Abstract
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.
  • References (7)
  • Citations (18)
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References7
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Abstract 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 ...
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Abstract We report here the first characterization of a gene encoding a homogentisate dioxygenase, the Aspergillus nidulans hmgA gene. The HmgA protein catalyzes an essential step in phenylalanine catabolism, and disruption of the gene results in accumulation of homogentisate in broths containing phenylalanine. hmgA putatively encodes a 448-residue polypeptide (M = 50,168) containing 21 histidine and 23 tyrosine residues. This polypeptide has been expressed in Escherichia coli as a fusion to glu...
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A 45-year-old woman had progressive pigmentation of the palms for 2 years. The skin of the thenar and hypothenar eminences and lateral index fingers showed spotty blue-black hyperpigmentation in association with patchy thickening and pitting. The skin over the medial heels showed similar but less severe changes. The patient also had hyperpigmentation, thickening, and reduced flexibility of the pinnae. Both sclera contained black pigmented patches. The nail plates had a gray discoloration. On fur...
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#1S. JanochaH-Index: 1
#2Werner WolzH-Index: 7
Last. C.R. Müller (Pasteur Institute)H-Index: 1
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Alkaptonuria (AKU; McKusick no. 203500) is a rare autosomal recessive disorder caused by the lack of homogentisic acid oxidase activity. Patients excrete large amounts of homogentisic acid in their urine and a black ochronotic pigment is deposited in their cartilage and collagenous tissues. Ochronosis is the predominant clinical complication of the disease leading to ochronotic arthropathy, dark urine, pigment changes of the skin, and other clinical features. A mutation causing alkaptonuria in t...
70 CitationsSource
Abstract 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...
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Abstract The biomedical literature on alcaptonuria, ochronosis and ochronotic joint disease, including 604 cases reported from thirty-five countries, is reviewed. The history of the development of our knowledge concerning this hereditary metabolic disorder, from 1584 to 1962, is recapitulated. The nature of the biochemical defect, a deficiency of homogentisic acid oxidase, in alcaptonuria is described and the pattern of genetic transmission traced. The geographic and racial distribution, and the...
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#1Lakshminarayan R. Ranganath (University of Liverpool)H-Index: 24
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: Ochronosis is the process in alkaptonuria (AKU) that causes all the debilitating morbidity. The process involves selective deposition of homogentisic acid (HGA)-derived pigment in tissues altering the properties of these tissues, leading to their failure. Some tissues like cartilage are more easily affected by ochronosis while others such as the liver and brain are unaffected for reasons that are still not understood. In vitro and mouse models of ochronosis have confirmed the dose relationship...
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#1Allison J. Good (UF: University of Florida)H-Index: 1
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: Collagenous and elastotic marginal plaques of the hand (CEMPH) is a rare, chronic keratoderma characterized by hyperkeratotic linear plaques located along the radial and ulnar aspects of the hands bilaterally. As an isolated finding, CEMPH occurs secondarily to chronic trauma and photodamage. Herein, CEMPH is described as a manifestation of alkaptonuria (AKU). In addition to keloidal collagen, ochronotic fibers and fragmented, thickened elastic fibers were observed. Additionally, mucin deposit...
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Introduction: Alkaptonuria (AKU) is a very rare disease and occurs due to the deficiency of the enzyme homogentisate1, 2-dioxygenase (HGD) which results in ochronosis, a term used to describe the dark pigmentation of the tissues. Alkaptonuria affects mostly the knee joint followed by the hip as major weight bearing joints, where the life quality of such patients is severely affected. Case Presentation: We present a case of Caucasian male who was suffering from severe osteoarthritis of the knee. ...
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Resume Les auteurs decrivent les aspects biochimiques, tissulaires et cliniques des trois stades chronologiques de la maladie, alcaptonurie, ochronose et arthropathie ochronotique. Pour l’ochronose au niveau des surfaces articulaires ou arthropathie ochronotique qui se developpe vers 40 ans, troisieme stade de l’affection, ils detaillent les signes cliniques et radiologiques devant permettre au rhumatologue de porter le diagnostic ainsi que les examens cliniques et paracliniques a realiser. L’ev...
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#1Molly Thomas (Christian Medical College & Hospital)H-Index: 6
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Background Endogenous ochronosis (EO) is a rare autosomal recessive disorder due to accumulation of oxidized and polymerized forms of homogentisic acid (HGA) in connective tissues, giving them a deep dark blue pigmentation. Aim Through a new Tunisian case of EO and a review of the literature, we aimed to define the epidemioclinical features of EO, its diagnostic criteria, and evolution. Methods Three hundred and forty patients were enrolled through 54 articles and four abstracts. Case report A 3...
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