Bilateral Breast Ochronosis: a Case Report
ABSTRACT: Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by de...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2021-12-01
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| Series: | JPRAS Open |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352587821000590 |
| _version_ | 1818428273199153152 |
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| author | Fatema A.J. AbdulKarim Safwat M. Ibrahim Arnold AD Hill Nadeem Ajmal |
| author_facet | Fatema A.J. AbdulKarim Safwat M. Ibrahim Arnold AD Hill Nadeem Ajmal |
| author_sort | Fatema A.J. AbdulKarim |
| collection | DOAJ |
| description | ABSTRACT: Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting in darkening of urine). More rarely, it may affect the breast. This rare and interesting case of a woman with ochronosis of both breasts and chest wall, prompted us to write this case report. |
| first_indexed | 2024-12-14T14:59:00Z |
| format | Article |
| id | doaj.art-06cabf0603c142f4a4a1622d3102325d |
| institution | Directory Open Access Journal |
| issn | 2352-5878 |
| language | English |
| last_indexed | 2024-12-14T14:59:00Z |
| publishDate | 2021-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | JPRAS Open |
| spelling | doaj.art-06cabf0603c142f4a4a1622d3102325d2022-12-21T22:56:54ZengElsevierJPRAS Open2352-58782021-12-01302328Bilateral Breast Ochronosis: a Case ReportFatema A.J. AbdulKarim0Safwat M. Ibrahim1Arnold AD Hill2Nadeem Ajmal3Royal College of Surgeons in Ireland; The author responsible for correspondence: Fatema AbdulKarim, Institution: Beaumont Hospital, Beaumont Road, Beaumont, Dublin 9, Republic of Ireland, Tel: +353876032273.Beaumont Hospital, IrelandRoyal College of Surgeons in IrelandBeaumont Hospital, IrelandABSTRACT: Ochronosis is a syndrome characterized by bluish black discoloration due to the deposition of polymerized products of homogentisic acid (HGA) in the connective tissues. The endogenous variety (alkaptonuria), is a rare autosomal recessive metabolic disorder. The disorder is manifested by deficiency of the enzyme homogentisate 1,2-dioxygenase. The characteristic of the condition is a triad of pigmentation of skin, cartilage, and sclera; ochronotic arthropathies and homogentisic aciduria (resulting in darkening of urine). More rarely, it may affect the breast. This rare and interesting case of a woman with ochronosis of both breasts and chest wall, prompted us to write this case report.http://www.sciencedirect.com/science/article/pii/S2352587821000590OchronosisAlkaptonuriaHomogentisic acidBreast ochronosisMastectomy |
| spellingShingle | Fatema A.J. AbdulKarim Safwat M. Ibrahim Arnold AD Hill Nadeem Ajmal Bilateral Breast Ochronosis: a Case Report JPRAS Open Ochronosis Alkaptonuria Homogentisic acid Breast ochronosis Mastectomy |
| title | Bilateral Breast Ochronosis: a Case Report |
| title_full | Bilateral Breast Ochronosis: a Case Report |
| title_fullStr | Bilateral Breast Ochronosis: a Case Report |
| title_full_unstemmed | Bilateral Breast Ochronosis: a Case Report |
| title_short | Bilateral Breast Ochronosis: a Case Report |
| title_sort | bilateral breast ochronosis a case report |
| topic | Ochronosis Alkaptonuria Homogentisic acid Breast ochronosis Mastectomy |
| url | http://www.sciencedirect.com/science/article/pii/S2352587821000590 |
| work_keys_str_mv | AT fatemaajabdulkarim bilateralbreastochronosisacasereport AT safwatmibrahim bilateralbreastochronosisacasereport AT arnoldadhill bilateralbreastochronosisacasereport AT nadeemajmal bilateralbreastochronosisacasereport |