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