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(A) and (B) Scleral pigmentation is visible in both eyes. (C) Greyish blue discoloration on the bilateral extensor surface of second finger.
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Examination also revealed gray pigmentation in both sclera (Figs. 1A and B) and grayish blue papules on the bilateral extensor surface of the second finger (Fig. 1C).
(A-D) X-rays of the cervical and lumbosacral spine showing advanced degenerative changes with intervertebral disc space narrowing and osteophyte formation. Disk calcifications are visible in the lumbosacral spine. (E and F) X-rays of the knee joints showing reduced joint space and osteophytes formation with loose bodies, suggestive of knee osteoarthritis.
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X-rays of the cervical and lumbosacral spine showed advanced degenerative changes with intervertebral disk space narrowing and osteophyte formation (Figs. 2A-D). X-rays of the knee joints showed reduced joint space and osteophyte formation with loose bodies, suggestive of osteoarthritis knees (Figs. 2E and F).
Urine sample changed color to brownish-black when allowed to stand in light for 24 hours.
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When the patient's urine sample was allowed to stand, it changed color to brownish black (Fig. 3).
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(A) and (B) Grayish-blue patches over proximal palms, index fingers, and thumbs. (C) Advanced degenerative changes in the knee suggesting secondary osteoarthritis. (D) Urine sample changed color to brownish-black when left in light for 24 hours. (E) Intervertebral disk calcifications with reduced bone density and advanced degenerative changes. (F) Magnetic resonance imaging reveals anterior wedging with partial fusion of T10 and T11 vertebrae, postsurgical architectural distortion, and loss of posterior elements.
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She had grayish-blue patches over her nose, proximal palms, index fingers, thumbs, dorsal foot, and macules in sclera and over face, ears, and knees (Figs. 4A and B). Her urine turned dark, when kept in the open for 24 hours (Fig. 4D). The knee X-rays showed degenerative changes (Fig. 4C). The postsurgical magnetic resonance imaging revealed anterior wedging with partial fusion of T10 and T11 vertebrae, postsurgical architectural distortion, and loss of posterior elements, seen also at that level. There was spinal canal stenosis at T10-11 with myelomalacia at T9-10 level. (Fig. 4F).