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• W2105609600 abstract "A 45-year-old white woman presented with a 3-year history of bluish discoloration of her ears (Fig. 1). The patient had noted a bluish-black staining of the armpit areas of her clothing for the prior 6 months. A review of systems and past medical history were significant for a history of constant right lower back pain and bilateral knee pain for approximately 1 year. A review of medications revealed daily use of conjugated estrogens and multivitamins and intermittent use of ibuprofen. A review of her family history revealed that a sister was affected with the same disorder, but the spouse and children were not. The patient's parents were not known to be consanguineous.Figure 1. Bluish patches are present on the ear overlying the cartilageDownload figure to PowerPointMucocutaneous examination was significant for bluish-black patches on the ears in areas overlying cartilage. Larger bluish patches were also noted in the axillary vaults. Cardiac, ophthalmologic, and dental examinations were normal. An echocardiogram was normal. Orthopedic evaluation revealed limited spinal range of motion. Examination of lumbosacral X-rays revealed marked degenerative disc disease at the T12–S1 levels and anterior osteophytosis at the T11–L2 levels. A bilateral knee X-ray series was normal.Complete blood count and serum chemistries were normal. A urine sample darkened upon standing for 1 day (Fig. 2, left side) as compared to a fresh urine specimen (Fig. 2, right side). A 0.5 cm3 urine sample turned black immediately upon addition of 5 cm3 of silver nitrate solution (3 g/100 cm3 ) and alkalinization with three drops of dilute ammonia. Punch biopsy of the left ear demonstrated both degenerative change and focal yellow–brown pigmentation of the cartilage (Fig. 3). A qualitative assay for urinary homogentisic acid (HGA) was positive (Fishberg test) (Fishberg EH. The instantaneous diagnosis of alkaptonuria on a single drop of urine. JAMA 1942; 119: 882). The presence of large amounts of urinary HGA was confirmed by gas chromatography and mass spectrometry.Figure 2. A urine sample darkened upon standing for 1 day (left side of figure) as compared to a fresh urine specimen (right side of figure)Download figure to PowerPointFigure 3. A punch biopsy from the left ear demonstrates degenerative change of the cartilage with focal yellow–brown pigmentation (× 66)Download figure to PowerPoint" @default.
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• W2105609600 date "2001-05-01" @default.
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• W2105609600 title "Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria" @default.
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• W2105609600 doi "https://doi.org/10.1046/j.1365-4362.2001.01122.x" @default.
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