Abstract |
Alkaptonuria is a rare hereditary metabolic disease of autosomal recessive inheritance, resulting from deficiency of the enzyme homogentisic acid oxidase. The term " alkaptonuria" was first used in 1859 by Boedeker to describe a patient's urinary reducing compound, and in 1866, Virchow coined the term " ochronosis" due to typical yellow pigmentation. Deposition of this pigment in articular cartilage leads to ochronotic arthropathy, the most incapacitating complication of alkaptonuria. We report a rare case of shoulder ochronotic arthritis, treated with total shoulder arthroplasty, achieving a successful long-term clinical and radiological outcomes.
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Authors | Giovanni Merolla, Arpit C Dave, Francesco Pegreffi, Lorenza Belletti, Giuseppe Porcellini |
Journal | Musculoskeletal surgery
(Musculoskelet Surg)
Vol. 96 Suppl 1
Pg. S93-9
(May 2012)
ISSN: 2035-5114 [Electronic] Italy |
PMID | 22447274
(Publication Type: Case Reports, Journal Article, Review)
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Topics |
- Alkaptonuria
(surgery)
- Arthroplasty, Replacement
- Humans
- Joint Diseases
(surgery)
- Male
- Middle Aged
- Shoulder Joint
(surgery)
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