title: Endogenous ochronosis.
abstract: Endogenous ochronosis or alkaptonuria is a rare, autosomal recessive disease of tyrosine metabolism that is caused by a deficiency of the enzyme homogentisic acid oxidase. The disease results in the accumulation and deposition of homogentisic acid in the cartilage, eyelids, forehead, cheeks, axillae, genital region, buccal mucosa, larynx, tympanic membranes, and tendons. The disease generally presents in adults with arthritis and skin abnormalities; occasionally, involvement of other organs may be seen. A 49-year-old man was referred to our clinic with verrucous lesions on his hands. On physical examination, caviar-like ochronotic papules were found around his eyes and the helix cartilage of his ears, and on the dorsa of both hands. There were brown macules on the sclera (Osler's sign). The patient had arthritis and nephrolithiasis, and a sample of his urine darkened upon standing. Histopathological examination showed deposition of ochronotic pigment. High-dose ascorbic acid was given, and the patient showed improvement on follow-up examination 6 months later.
authors.affiliation: Department of Dermatology, Okmeydani Education and Research Hospital, Istanbul, Turkey. evrenturgay@gmail.com
authors.forename: E
authors.initials: E
authors.lastname: Turgay
authors.forename: D
authors.initials: D
authors.lastname: Canat
authors.forename: M S
authors.initials: MS
authors.lastname: Gurel
authors.forename: T
authors.initials: T
authors.lastname: Yuksel
authors.forename: M F
authors.initials: MF
authors.lastname: Baran
authors.forename: C
authors.initials: C
authors.lastname: Demirkesen
mesh_terms: D001205:Ascorbic Acid / Q000627:therapeutic use*; D004431:Ear, External / Q000473:pathology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009794:Ochronosis / Q000188:drug therapy / Q000473:pathology*; D016896:Treatment Outcome
chemical_list: D001205:Ascorbic Acid