title: Shoulder arthroplasty in alkaptonuric arthropathy: a clinical case report and literature review.
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.
authors.affiliation: Unit of Shoulder and Elbow Surgery, D Cervesi Hospital, Via L Van Beethoven 1, 47841 Cattolica, RN, Italy. giovannimerolla@hotmail.com
authors.forename: Giovanni
authors.initials: G
authors.lastname: Merolla
authors.forename: Arpit C
authors.initials: AC
authors.lastname: Dave
authors.forename: Francesco
authors.initials: F
authors.lastname: Pegreffi
authors.forename: Lorenza
authors.initials: L
authors.lastname: Belletti
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Porcellini
mesh_terms: D000474:Alkaptonuria / Q000601:surgery*; D019643:Arthroplasty, Replacement; D006801:Humans; D007592:Joint Diseases / Q000601:surgery*; D008297:Male; D008875:Middle Aged; D012785:Shoulder Joint / Q000601:surgery*