Ochronosis genetic and rare diseases information center. This book comprehensively describes alkaptonuria and ochronosis. Exogenous ochronosis masquerading refractory melasma. 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. References to any names, marks, products, or services of third parties or hypertext links to third. Download free adobe acrobat reader dc software for your windows, mac os and android devices to view, print, and comment on pdf documents. Although no report is found in the literature, regarding the success of this therapy in patients with ochronosis. Ochronosis refers to the deposition of ocher pigment homogentisic acid in the dermis. Fdm can boost all your downloads up to 10 times, process media files. Department of orthopedic surgery, sina hospital, imam khomeini street, tehran 16746911, iran background. If the inline pdf is not rendering correctly, you can download the pdf file here. Ochronosis from quinacrine atabrine annals of internal. 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.
Free download manager download everything from the internet. An elderly diabetic case of ochronosis with depression and. Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective. 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 causes, symptoms, diagnosis, treatment and. Marked changes in intervertebral disc morphology in. 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. However, it can also take place from the exogenous administration of various phenol complexes such as hydroquinone. This case report describes a 69 yearold woman with diabetes mellitus, ochronosis. Get a printable copy pdf file of the complete article 503k, or click on a page image below to browse page by page. 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. Dermoscopic and reflectance confocal microscopic features of. Please visit the project page for details or ask questions at wikipedia. It may be caused largely by hydroquinone, a fenolic compound which is used in the treatment of melasma. 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. For language access assistance, contact the ncats public information officer. 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.
Jump to content jump to main navigation jump to main navigation. 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. Joint involvement specially hip and knee destruction is seen. Beginning with the history, genetics, pathophysiology and diagnostics of the disease, the authors subsequently present a detailed. 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. Her brother was having similar complaints during followup. 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. An association between ochronosis and depression has not previously been discussed in the literature. Ochronosis is connective tissue manifestation of alkaptonuria. Backgroundexogenous ochronosis presents as an acquired asymptomatic. 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. 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. Alternatively, you can also download the pdf file directly to your computer, from where it can be opened using a pdf reader. Both patients were prescribed to take glucosamine and chondroitine.
Just upload files you want to join together, reorder them with draganddrop if you need and click join files. Ochronosis has been noted worldwide and the highest frequency has been sighted at the dominican republic and slovakia. The condition was named after the yellowish ocherlike discoloration of the tissue seen on microscopic. Get a printable copy pdf file of the complete article 228k, or click on a page image below to browse page by page.
Abstract ochronosis is a rare but fascinating metabolic disorder which is sometimes startling for its discoloration of the cartilages, sclerae and. 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. Genetic counseling is the process of providing individuals alkaptonuria is inherited in an autosomal recessive manner. The morphologic features of deposition of ochronotic pigment using in vivo skin. Pdf alkaptonuria is a rare autosomal recessive disorder of metabolism caused by deficiency of homogentisic acid oxidase and resulting in accumulation. The pathology of alkaptonuric ochronosis sciencedirect.
On page 12, volume 2 and on page 698 in the single tome edition the reference. Full text full text is available as a scanned copy of the original print version. 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. Alkaptonuria, a rare hereditary metabolic disorder, is characterized by accumulation of homogentisic acid in the connective tissues resulting from lack. 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. Ochronosis definition of ochronosis by medical dictionary. Acquired form of ochronosis can be seen after exposure to some chemicals like hydroquinone. Abstractalkaptonuria is a rare metabolic disease in which a deficiency of the enzyme homogentisate dioxygenase causes an accumulation of homogentisic acid. The term ochronosis usually refers to the bluishblack discolouration of certain tissues, such as the ear cartilage and the ocular tissue, seen with alkaptonuria. Sun exposure facilitates the formation of exogenous ochronosis and must be strictly avoided, although it is a. 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. Degenerative arthropathy of the spine, knee, and hip are common signs of ochronosis in older age.
Alkaptonuria and ochronosis experience from slovakia in. Ochronosis is a syndrome caused by the accumulation of homogentisic acid in connective tissues. Pdf joiner allows you to merge multiple pdf documents and images into a single pdf file, free of charge. 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. Exogenous ochronosis was first related in 1906 by pick. Alkaptonuria is a rare autosomal recessive disorder characterised by the absence of homogentisic acid oxidase, due to deficiency of an enzyme. Emphasis is placed on the most clinically relevant organ systems involved by ochronosis. The incidence of ochronosis increases with age, the peak being in the fifth decade.
Medical works of the sixteenth and seventeenth centuries cite instances of urines which were black when voided or which darkened on exposure to air. Exogenous ochronosis is an infrequent dermatosis characterized by dark blue hyperpigmentation. Abstract alkaptonuria is a rare inherited genetic disorder of phenylalanine. Both the xray and mri study revealed the typical alterations of ochronosis in the cases with a known diagnosis.
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. 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. Some authorities, however, refer to musculoskeletal manifestations of alkaptonuria as ochronosis 3. If you have problems viewing pdf files, download the latest version of adobe reader. Pdf exogenous ochronosis is a rare, cosmetically disfiguring condition, resulting from the. Homogentisic acid is an intermediate in the degradation pathway of the amino acids phenylalanine and tyrosine to the krebs cycle. Alkaptonuria is characterized by the presence of black urine, ochronosis black bones and cartilage and a degenerative arthritis of the joints. Pdf a late and difficult diagnosis of ochronosis researchgate. Pdf alkaptonuria aku is a rare disorder of autosomal recessive inheritance. Adobe acrobat reader dc download free pdf viewer for. Exogenous ochronosis europe pmc article europe pmc. Ochronosis frequently presents as a triad of arthritis, dark urine, and bluish discoloration.
1365 1351 859 130 109 76 182 185 864 961 6 682 784 1327 800 736 1317 906 1262 1644 341 1103 1520 465 1141 291 40 171 1064 744 634 281 1092 109 420 758 529 1162 546 1472 97 597 542 660 429 1307 1173 248 1245