Ochronotic pigmentation is caused by homogentisic acid and is the key event in alkaptonuria leading to the destructive consequences of the disease—A review
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DOI: 10.1002/jimd.12152
Abstract: 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.… read more here.
Keywords: pigmentation caused; homogentisic acid; ochronotic pigmentation; disease ... See more keywords
A Mimic of Ankylosing Spondylitis, Ochronosis: Case Report and Review of the Literature
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DOI: 10.1007/s11882-021-01002-1
Abstract: Purpose of Review Ochronosis and alkaptonuria are manifestations of the same condition—a rare autosomal recessive disorder resulting from a constitutional lack of homogentisate 1,2-dioxygenase (HGD) with the consequent accumulation of homogentisic acid (HGA). In ochronosis,… read more here.
Keywords: mimic ankylosing; ankylosing spondylitis; case; ochronosis ... See more keywords
Raman Spectroscopy identifies differences in ochronotic and non-ochronotic cartilage; a potential novel technique for monitoring ochronosis.
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DOI: 10.1016/j.joca.2019.04.012
Abstract: OBJECTIVE Alkaptonuria (AKU) is a rare, inherited disorder of tyrosine metabolism, where patients are unable to breakdown homogentisic acid (HGA), which increases systemically over time. It presents with a clinical triad of features; HGA in… read more here.
Keywords: technique; ochronotic cartilage; non ochronotic; ochronosis ... See more keywords
Exogenous ochronosis: Screening by dermoscopy and histopathological confirmation
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DOI: 10.4103/jnsbm.jnsbm_74_19
Abstract: A 51-year-old female presented with a 10-year history of brownish skin marks on her cheeks. Dermatological examination showed malar brownish macular lesions with diffused reddish areas and superimposing brownish papules. Further dermoscopic examination showed short… read more here.
Keywords: ochronosis screening; dermoscopy histopathological; ochronosis; histopathological confirmation ... See more keywords