PMC2929554_01
A fair-complexioned baby in unconscious state
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Clinical examination revealed an unconscious, fair-complexioned baby (as compared to parents and other siblings) with flat nasal bridge and pudgy cheeks [Figure 1].
Light microscopy of hair showing pili torti (x-200)
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Few hairs were plucked for light microscopy which revealed a series of regularly spaced twists along the light-colored hair shafts [Figure 2].
PMC2929554_02
PMC2929554_03
Bronze-tan of photo-exposed skin with silvery shine of the hair
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Hair showed a silvery shine [Figure 3].
Irregular clumps of melanin along the hair shaft (x-200)
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Few hairs were plucked from patient's scalp and examined under microscope, which revealed irregular clumps of melanin along the hair shaft [Figure 4].