PMC3358937_01
(a) Photograph of the infant showing hypotrichosis over scalp, lack of eyebrows and eyelashes, and milia over face, Eyebrows have been drawn by the mother. (b) Milia over scalp and right ear
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F1
On examination, all the three terminal hair-bearing areas before puberty were affected: Sparse and lightly pigmented hair over scalp, absence of eyebrows and eyelashes [Figure 1a]. Multiple discrete, white, superficial, firm papules were present over scalp, face, and ears [Figure 1b].
Scattered milia on both thighs and legs
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F2
Few scattered papules were seen over thighs, legs, and hands [Figure 2].
Numerous pits on the palm
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F3
The infant had numerous tiny pits over both palms and soles [Figure 3].
Histopathology of a papule showing cyst in dermis (H and E x40)
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F4
Histopathological examination of a papule was consistent with milia [Figure 4].