(1) Alkaptonuria. (2) Ochronosis. Presented by Murray C. Zimmerman, M.D.
This 58-year-old white man was first seen in February, 1950. At this time he had arthritis in the back and neck, and known kidney stones, for several weeks. He also stated that his ears had been blue ever since they were frozen in 1917. Both his urine and his axillary sweat stained clothing brown. There is no history of exposure to phenol or phenolic compounds. There is no familial history of similar trouble, and no consanguinity.Physical Examination: Bluish green axillae; greenish pigmented pinpoint spots, slightly papilliform, on the fingers; ear cartilages which were seen to be green when the skin was blanched, and were abnormally stiff. Bilateral, symmetrical, brownish scleral pigmentations were on each side of pupil. X-ray showed renal calculi, and osteoarthritic changes in spine.Laboratory (Urine): Urine turns dark upon standing, without any additions being made. It