PMC6254535_01
Clinical findings.. Notes: (A) Dolichocephaly, alopecia, and hypopigmented skin; (B) kinky, hypopigmented hair; (C) pili torti observed during dermatoscopy.
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Physical examination showed generalized hypotonia, lack of eye contact, dry skin, kinky hair, and minor malformations including dolichocephaly, micrognathia, and pectus excavatum (Figure 1).
Microscopic hair analysis.. Notes: (A) Trichorrhexis nodosa; (B) monilethrix.
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Light microscopy of scalp hair at 5 months of age revealed abnormally silver-colored hairs, pili torti (hair shafts twisted 180 ), nodosa trichorrhexis (transverse fractures of the hair shaft), and monilethrix (Figure 2).
Radiologic findings.. Notes: (A) Diffuse cerebral atrophy; (B) tortuosity of cerebral blood vessels.
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The cerebral blood vessels were tortuous on magnetic resonance angiography (Figure 3).
PMC6254535_02