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J Orthop Case Rep
January 2025
Department of Orthopaedics, Apollo Adlux Hospital, Angamali, Kochi, Kerala, 683576, India.
Introduction: Alkaptonuria is a metabolic disorder due to accumulation of homogentisic acid, leading to destruction of major joints. Very few cases of ochronosis with shoulder involvement have been reported in literature.
Case Report: We report a 31-year-old male who presented with shoulder pain for 4 months.
J Anat
December 2024
Human Anatomy Resource Centre, Education Directorate, University of Liverpool, Liverpool, UK.
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.
View Article and Find Full Text PDFCureus
August 2024
Dermatology, Henry Ford Health, Detroit, USA.
Clin Neurol Neurosurg
July 2024
Department of Neurosurgery, Ziekenhuis Oost-Limburg, Genk 3600, Belgium.
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