Ochronotic Chondropathy: A Case Report
Endogenous ochronosis, also known as alkaptonuria, is a rare disease known for its bluish-black discoloration of the skin, sclerae, and pinnae, as well as urine that turns black upon standing. Though rarely fatal, joint degradation is a common sequela, and many patients require multiple large joint...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-09-01
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| Series: | Biomedicines |
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| Online Access: | https://www.mdpi.com/2227-9059/11/10/2625 |
| _version_ | 1797574687190941696 |
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| author | Jake Littman John Pietro Jon Olansen Chanika Phornphutkul Roy K. Aaron |
| author_facet | Jake Littman John Pietro Jon Olansen Chanika Phornphutkul Roy K. Aaron |
| author_sort | Jake Littman |
| collection | DOAJ |
| description | Endogenous ochronosis, also known as alkaptonuria, is a rare disease known for its bluish-black discoloration of the skin, sclerae, and pinnae, as well as urine that turns black upon standing. Though rarely fatal, joint degradation is a common sequela, and many patients require multiple large joint arthroplasties throughout their lifetime. Though many aspects of the pathophysiological mechanisms of the disease have been described, questions remain, such as how the initiation of ochronotic pigmentation is prompted and the specific circumstances that make some tissues more resistant to pigmentation-related damage than others. In this report, we present the case of an 83-year-old female previously diagnosed with alkaptonuria including high-quality arthroscopic images displaying the fraying of articular cartilage. We also offer a summary of the latest literature on the pathophysiological mechanisms of the disease, including cellular-level changes observed in ochronotic chondrocytes, biochemical and mechanical alterations to the cartilaginous extracellular matrix, and patterns of pigmentation and joint degradation observed in humans and mice models. With these, we present an overview of the mechanisms of ochronotic chondropathy and joint degradation as the processes are currently understood. While alkaptonuria itself is rare, it has been termed a “fundamental disease,” implying that its study and greater understanding have the potential to lead to insights in skeletal biology in general, as well as more common pathologies such as osteoarthritis and their potential treatment mechanisms. |
| first_indexed | 2024-03-10T21:25:51Z |
| format | Article |
| id | doaj.art-c5c879a026584ced95dec535e8250a6f |
| institution | Directory Open Access Journal |
| issn | 2227-9059 |
| language | English |
| last_indexed | 2024-03-10T21:25:51Z |
| publishDate | 2023-09-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Biomedicines |
| spelling | doaj.art-c5c879a026584ced95dec535e8250a6f2023-11-19T15:44:44ZengMDPI AGBiomedicines2227-90592023-09-011110262510.3390/biomedicines11102625Ochronotic Chondropathy: A Case ReportJake Littman0John Pietro1Jon Olansen2Chanika Phornphutkul3Roy K. Aaron4Department of Orthopedic Surgery, Warren Alpert Medical School of Brown University, Providence, RI 02903, USAWarren Alpert Medical School of Brown University, Providence, RI 02903, USADepartment of Orthopedic Surgery, Warren Alpert Medical School of Brown University, Providence, RI 02903, USADivision of Human Genetics, Department of Pediatrics, Hasbro Children’s Hospital, Warren Alpert Medical School of Brown University, Providence, RI 02903, USADepartment of Orthopedic Surgery, Warren Alpert Medical School of Brown University, Providence, RI 02903, USAEndogenous ochronosis, also known as alkaptonuria, is a rare disease known for its bluish-black discoloration of the skin, sclerae, and pinnae, as well as urine that turns black upon standing. Though rarely fatal, joint degradation is a common sequela, and many patients require multiple large joint arthroplasties throughout their lifetime. Though many aspects of the pathophysiological mechanisms of the disease have been described, questions remain, such as how the initiation of ochronotic pigmentation is prompted and the specific circumstances that make some tissues more resistant to pigmentation-related damage than others. In this report, we present the case of an 83-year-old female previously diagnosed with alkaptonuria including high-quality arthroscopic images displaying the fraying of articular cartilage. We also offer a summary of the latest literature on the pathophysiological mechanisms of the disease, including cellular-level changes observed in ochronotic chondrocytes, biochemical and mechanical alterations to the cartilaginous extracellular matrix, and patterns of pigmentation and joint degradation observed in humans and mice models. With these, we present an overview of the mechanisms of ochronotic chondropathy and joint degradation as the processes are currently understood. While alkaptonuria itself is rare, it has been termed a “fundamental disease,” implying that its study and greater understanding have the potential to lead to insights in skeletal biology in general, as well as more common pathologies such as osteoarthritis and their potential treatment mechanisms.https://www.mdpi.com/2227-9059/11/10/2625ochronosisalkaptonuriaochronotic pigmentationchondropathychondrocytecartilage |
| spellingShingle | Jake Littman John Pietro Jon Olansen Chanika Phornphutkul Roy K. Aaron Ochronotic Chondropathy: A Case Report Biomedicines ochronosis alkaptonuria ochronotic pigmentation chondropathy chondrocyte cartilage |
| title | Ochronotic Chondropathy: A Case Report |
| title_full | Ochronotic Chondropathy: A Case Report |
| title_fullStr | Ochronotic Chondropathy: A Case Report |
| title_full_unstemmed | Ochronotic Chondropathy: A Case Report |
| title_short | Ochronotic Chondropathy: A Case Report |
| title_sort | ochronotic chondropathy a case report |
| topic | ochronosis alkaptonuria ochronotic pigmentation chondropathy chondrocyte cartilage |
| url | https://www.mdpi.com/2227-9059/11/10/2625 |
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