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Alkaptonuria (AKU) is an extremely rare autosomal recessive metabolic disorder caused by deficiency of homogentisic acid oxidase and resulting in accumulation of homogentisic acid in collagenous structures. It is characterized by a triad of homogentisic aciduria, bluish-black discoloration of connective tissues (ochronosis) and arthropathy of large weight bearing joints. We report on a middle-aged female patient with bilateral severe ochronotic arthritis of both hips and shoulder joints requiring total joint replacements as staged procedures which were done without complications offering a complete pain relief and a satisfactory clinical and functional outcome.
View Article and Find Full Text PDFA heart so black: a case of alkaptonuric ochronosis of the aortic and mitral valves in a female patient with severe aortic valve stenosis and coronary artery disease.
J Surg Case Rep
October 2024
Cardiac Innovation Center, Apollonion Hospital, Lefkotheou 20, Nicosia, Nicosia 2054, Cyprus.
Article Synopsis
- Alkaptonuric ochronosis is a condition caused by the buildup of homogentisic acid in body tissues, often associated with the rare genetic disorder alkaptonuria due to a specific enzyme deficiency.
- A case report describes a 64-year-old woman with serious heart issues who exhibited ochronotic pigmentation in her heart valves and surrounding structures, highlighting the condition's impact on cardiovascular health.
- This case underscores the importance of considering ochronosis as a potential factor in diagnosing valvular diseases even when a patient hasn’t been previously diagnosed with alkaptonuria.
Exogenous Ochronosis With Vitiligo: A Therapeutic Challenge.
Skin Res Technol
October 2024
Department of Dermatology, Plastic Surgery Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Localized argyria with pseudo-ochronosis: A report of two cases highlighting involvement of elastic fibers.
J Cutan Pathol
September 2023
Department of Dermatology, Geisinger Medical Center, Danville, Pennsylvania, USA.
Exogenous Ochronosis With Ocular Involvement From Chronic Use of Teavigo.
Ophthalmic Plast Reconstr Surg
November 2023
Ocular Oncology Service, Wills Eye Hospital.
Article Synopsis
- * Common substances that can lead to this condition include hydroquinone and other phenolic compounds, which result in a distinctive "banana-shaped" pigment appearance under a microscope.
- * The authors discuss a rare case where chronic use of Teavigo, a supplement high in antioxidants, triggered exogenous ochronosis in areas such as the conjunctiva, sclera, and skin.
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