PMC5871382_01
Ichthyosiform peeling, hypoplastic and low implanted nipples,
umbilical hernia, joint contractures and reduction of the subcutaneous
tissue
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f1
The patient had hypoplastic, low implanted nipples, hypogonadism, microcephaly, frontal bossing, prominent ears, anteverted nares, receding chin, dental enamel changes, joint contractures and umbilical hernia (Figure 1). On dermatological examination, there was an ichthyosiform peeling of the skin all over the body, photosensitivity, coarse, thick and short scalp hair, darker, short and coarse eyebrow hair, nail clubbing and thinning, and reduced subcutaneous fatty tissue (Figures 1 and 2).
Dry and coarse hair. Eyebrow hair and eyelashes are darker, thick and
coarse. And, microcephalus, frontal bossing, low implantation of the
ears, short and illdemarcated nasal philtrum, small chin, dental enamel
changes
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f2
On dermatological examination, there was an ichthyosiform peeling of the skin all over the body, photosensitivity, coarse, thick and short scalp hair, darker, short and coarse eyebrow hair, nail clubbing and thinning, and reduced subcutaneous fatty tissue (Figures 1 and 2).
Hair microscopy showing dark and light bands, pili torti
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f3
Hair microscopy showed structural changes of the shaft, such as trichorrhexis nodosa, trichoschisis and pili torti (Figure 3).
Hair microscopy under polarized light showing alternating light and
dark bands, typical of the "tiger tail" pattern
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f4
Polarized light examination revealed dark bands alternating with light bands in a "tiger tail" pattern (Figure 4).