title: Alkaptonuria--case report.
abstract: Alkaptonuria, also called endogenous ochronosis, is a rare metabolic autosomal recessive disorder. It occurs by complete inhibition of homogentisic acid oxidase enzyme having its deposition in various tissues. Male patient, 52 years old, sought medical help complaining about progressive appearance of hyperchromic papules on the lateral edge of the second finger of both hands for 02 years. He also complained about darkening of urine, sperm and underwear. Incisional biopsy of second hand finger and test for homogentisic acid in the urine results were positive. The findings are compatible with the diagnosis of alkaptonuria. Given these findings, treatment was initiated, followed-up by other specialties and he was advised to avoid certain foods.
authors.affiliation: Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Fernanda Helena
authors.initials: FH
authors.lastname: Craide
authors.affiliation: Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Juliana Salvini Barbosa Martins da
authors.initials: JS
authors.lastname: Fonseca
authors.affiliation: Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Priscila Coelho
authors.initials: PC
authors.lastname: Mariano
authors.affiliation: Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Natalia Monteiro
authors.initials: NM
authors.lastname: Fernandez
authors.affiliation: Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Carlos Gustavo Carneiro de
authors.initials: CG
authors.lastname: Castro
authors.affiliation: Policlínica Geral do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
authors.forename: Yuri de Souza Lima
authors.initials: Yde S
authors.lastname: Mene
mesh_terms: D000474:Alkaptonuria / Q000473:pathology*; D001706:Biopsy; D006801:Humans; D008297:Male; D008875:Middle Aged; D009794:Ochronosis / Q000473:pathology*; D012590:Sclera / Q000473:pathology; D012867:Skin / Q000473:pathology