Abstract alkaptonuria is a rare inherited genetic disorder of phenylalanine. Exogenous ochronosis was first related in 1906 by pick. Abstract ochronosis is a rare but fascinating metabolic disorder which is sometimes startling for its discoloration of the cartilages, sclerae and. Dermoscopic and reflectance confocal microscopic features of. Ochronosis genetic and rare diseases information center. Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective. Exogenous ochronosis masquerading refractory melasma.
Background alkaptonuria aku is a rare metabolic disease caused by deficiency of homogentisate 1,2 dioxygenase, an enzyme involved in tyrosine catabolism, resulting in increased. Ochronotic arthropathy is present in patients with alkaptonuric ochronosis, which is characterized by dark pigmentation of connective tissue and black discoloration of urine owing to a deficiency of homogentisic acid oxidase. Ochronosis from quinacrine atabrine annals of internal. Abstractalkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. Ochronosis is usually associated with the rare hereditary metabolic disease, alcaptonuria, in which there is a defect in the hepatic enzyme, homogentisic acid oxidase, and consequently an. Pdf exogenous ochronosis is a rare, cosmetically disfiguring condition, resulting from the. Alkaptonuria is characterized by the presence of black urine, ochronosis black bones and cartilage and a degenerative arthritis of the joints. Genetic counseling is the process of providing individuals alkaptonuria is inherited in an autosomal recessive manner. Marked changes in intervertebral disc morphology in. The condition was named after the yellowish ocherlike discoloration of the tissue seen on microscopic. Medical works of the sixteenth and seventeenth centuries cite instances of urines which were black when voided or which darkened on exposure to air. Both the xray and mri study revealed the typical alterations of ochronosis in the cases with a known diagnosis. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext.
The term ochronosis usually refers to the bluishblack discolouration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria. Ochronosis in the aortic valve is a rare occurrence and there is limited data available on the most appropriate choice of valve prosthesis in these patients. An association between ochronosis and depression has not previously been discussed in the literature. The incidence of ochronosis increases with age, the peak being in the fifth decade. Free download manager download everything from the internet. Ochronosis of the aortic valve selvakumar journal of. Emphasis is placed on the most clinically relevant organ systems involved by ochronosis. Pdf alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation. Smith on ochronosis, the statement is made that harvey cushings finding that the first british case of ochronosis had been diagnosed addisons disease does not appear in the medical literature and is worth recording.
Ochronosis alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black. Jump to content jump to main navigation jump to main navigation. If the file has been modified from its original state, some details such as the timestamp may not fully reflect those of the original file. Homogentisic acid is an intermediate in the degradation pathway of the amino acids phenylalanine and tyrosine to the krebs cycle.
Department of orthopedic surgery, sina hospital, imam khomeini street, tehran 16746911, iran background. On page 12, volume 2 and on page 698 in the single tome edition the reference. Pdf a late and difficult diagnosis of ochronosis researchgate. However, it can also take place from the exogenous administration of various phenol complexes such as hydroquinone. Degenerative arthropathy of the spine, knee, and hip are common signs of ochronosis in older age. Acquired form of ochronosis can be seen after exposure to some chemicals like hydroquinone.
Fdm can boost all your downloads up to 10 times, process media files. Exogenous ochronosis eo is an entity that manifests as blackbluish or grayishbrown cutaneous hyperpigmentation, which is a consequence of the deposition of ochronotic pigment with. Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme. This article is within the scope of wikiproject medicine, which recommends that medicinerelated articles follow the manual of style for medicinerelated articles and that biomedical information in any article use highquality medical sources. Some authorities, however, refer to musculoskeletal manifestations of alkaptonuria as ochronosis 3. Exogenous ochronosis eo refers to the bluishblack discoloration of areas of the skin, especially the face, ear cartilage, the ocular eye tissue, and other body locations. Alkaptonuria and ochronosis experience from slovakia in.
Both patients were prescribed to take glucosamine and chondroitine. Ochronosis is most frequently associated with alkaptonuria. This book comprehensively describes alkaptonuria and ochronosis. This case report describes a 69 yearold woman with diabetes mellitus, ochronosis. Ochronosis has been noted worldwide and the highest frequency has been sighted at the dominican republic and slovakia. Just upload files you want to join together, reorder them with draganddrop if you need and click join files. For language access assistance, contact the ncats public information officer. Although no report is found in the literature, regarding the success of this therapy in patients with ochronosis. Any information contained in this pdf file is automatically generated from digital material submitted to epos by third parties in the form of scientific presentations. Ochronosis associated with alkaptonuria is caused by a mutation in the hgd gene, which results in the accumulation and deposition of homogentisic acid hga in cartilage. Ochronosis is the name given by virchow in 1866 to a condition characterized by the pigmentation of the cartilages, ligaments, tendons and of the intima of the large blood vessels of the.
Please visit the project page for details or ask questions at wikipedia. References to any names, marks, products, or services of third parties or hypertext links to third. The pathology of alkaptonuric ochronosis sciencedirect. Exogenous ochronosis europe pmc article europe pmc. Sun exposure facilitates the formation of exogenous ochronosis and must be strictly avoided, although it is a. Ochronosis refers to the deposition of ocher pigment homogentisic acid in the dermis.
Ochronosis is connective tissue manifestation of alkaptonuria. Ochronosis is usually associated with the rare hereditary metabolic disease, alcaptonuria, in which there is a defect in the hepatic enzyme, homogentisic acid oxidase, and consequently an accumulation in the blood and spillover in the urine of homogentisic acid 1, 2. Ochronosis frequently presents as a triad of arthritis, dark urine, and bluish discoloration. Pdf alkaptonuria aku is a rare disorder of autosomal recessive inheritance. If the inline pdf is not rendering correctly, you can download the pdf file here. Ochronosis definition of ochronosis by medical dictionary. An elderly diabetic case of ochronosis with depression and. Download free adobe acrobat reader dc software for your windows, mac os and android devices to view, print, and comment on pdf documents.
Joint involvement specially hip and knee destruction is seen. Her brother was having similar complaints during followup. Alternatively, you can also download the pdf file directly to your computer, from where it can be opened using a pdf reader. Adobe acrobat reader dc download free pdf viewer for.
If you have problems viewing pdf files, download the latest version of adobe reader. In addition, free download manager for macos and windows allows you to adjust traffic usage, organize downloads, control file priorities for torrents, efficiently download large files and resume broken downloads. Ochronosis causes, symptoms, diagnosis, treatment and. Exogenous ochronosis is an infrequent dermatosis characterized by dark blue hyperpigmentation. Backgroundexogenous ochronosis presents as an acquired asymptomatic. Get a printable copy pdf file of the complete article 503k, or click on a page image below to browse page by page. We present a case of exogenous ochronosis in a 53yearold woman with skin type iv, who used a topical hydroquinone preparation of an unknown concentration for several years. Full text full text is available as a scanned copy of the original print version. Get a printable copy pdf file of the complete article 228k, or click on a page image below to browse page by page. The pdf file you selected should load here if your web browser has a pdf reader plugin installed for example, a recent version of adobe acrobat reader.
This file contains additional information such as exif metadata which may have been added by the digital camera, scanner, or software program used to create or digitize it. Pdf joiner allows you to merge multiple pdf documents and images into a single pdf file, free of charge. It may be caused largely by hydroquinone, a fenolic compound which is used in the treatment of melasma. Alkaptonuria, a rare hereditary metabolic disorder, is characterized by accumulation of homogentisic acid in the connective tissues resulting from lack. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed. The morphologic features of deposition of ochronotic pigment using in vivo skin.
278 874 1165 725 1406 1299 1372 1069 132 660 940 1262 288 299 1110 881 451 525 45 1141 553 1516 121 1292 676 984 481 132 170 552 1140 284 712 207 1030 176 992 85 851 1198 750 1135 1191 866 976 613 326 392 339