Bluish patches on the ears and axillae with dark urine: ochronosis and alkaptonuria

A 45-year-old white woman presented with a 3-year history of bluish discolo ration 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 sys tems and past medical history were significant for a history of constant ri ght lower back pain and bilateral knee pain for approximately 1 year. A rev iew of medications revealed dally use of conjugated estrogens and multivita mins and Intermittent use of ibuprofen. A review of her family history reve aled 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 consanguineou s. Mucocutaneous examination was significant for bluish-black patches on the e ars 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 limite d 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 dark ened upon standing for 1 day (Fig. 2, left side) as compared to a fresh uri ne specimen (Fig. 2, right side). A 0.5 cm(3) urine sample turned black imm ediately upon addition of 5 cm(3) of silver nitrate solution (3 g/100 cm(3) ) and alkalinization with three drops of dilute ammonia. Punch biopsy of th e left ear demonstrated both degenerative change and focal yellow-brown pig mentation of the cartilage (Fig. 3). A qualitative assay for urinary homoge ntisic acid (HGA) was positive (Fishberg test) (Fishberg EH. The instantane ous diagnosis of alkaptonuria. on a single drop of urine. JAMA 1942; 119: 8 82). The presence of large amounts of urinary HGA was confirmed by gas chro matography and mass spectrometry.