Hereditary ochronosis: hyperpigmented skin overlying cartilaginous structures.
Hereditary ochronosis, or alkaptonuria, results from deficiency of homogentisic acid oxidase. It is an autosomal recessive condition found in geographically isolated populations. The excess homogentisic acid deposits in collagenous structures, leading to unusual pigmentation of the skin overlying cartilaginous structures, but on occasion pigment is also seen in the sclera, in sweat after oxidation, and classically, in urine when left standing at room temperature. This case report highlights the pathogenesis and expression of this rare disorder.
Garcia
S F
SF
Department of Dermatology, Stanford University Medical Center, California, USA.
Egbert
B
B
Swetter
S M
SM
D000328:Adult; D001168:Arthritis / Q000175:diagnosis* / Q000235:genetics; D002356:Cartilage / Q000473:pathology; D006801:Humans; D017495:Hyperpigmentation / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008159:Lumbar Vertebrae / Q000000981:diagnostic imaging; D008297:Male; D009794:Ochronosis / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics / Q000652:urine; D011859:Radiography; D014075:Tooth Discoloration / Q000175:diagnosis* / Q000235:genetics