[A rare metabolic disease: alkaptonuria--ochronosis].
The authors describe the case of a 40-year-old female patient. Since childhood her urine had caused black discoloration on her underwear. For about a year the skin of the axillae and pinnae had been bluish-black without subjective complaints. One year before admission, pain in the thoracic and lumbar spine began, with limitation of motion. Examination of the urine, histological and electron microscopical findings, and X-ray examination of the spinal column confirmed the diagnosis of alkaptonuria and congenital ochronosis.
Hortobágyi
J
J
Dermatologische Klinik, Medizinischen Universität Pécs.
Schneider
I
I
Sebök
B
B
Klujber
L
L
D000328:Adult; D000474:Alkaptonuria / Q000473:pathology*; D001706:Biopsy; D002356:Cartilage / Q000473:pathology; D004427:Ear Diseases / Q000473:pathology*; D004431:Ear, External / Q000473:pathology; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D008854:Microscopy, Electron; D009794:Ochronosis / Q000473:pathology*; D012867:Skin / Q000473:pathology
Eine seltene Stoffwechselerkrankung: Alkaptonurie--Ochronose.