PMC5738549_01
Pili torti hair findings in patients 1 and 2. A, Clinical photographs of patient 1 and 2 reveal sparse, brittle hair. B, Hair mount microscopies of patient 1 and 2 reveal hair twisting at its axis. C, Histology of scalp biopsy from patient 1 and 2. Blue stars indicate areas of perifollicular fibrosis. (C, Hematoxylin-eosin stain; original magnification: x20.)
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Clinical examination revealed diffusely coarse, sparse, and brittle hair (Fig 1, A). Microscopic evaluation of the hair shafts revealed numerous hairs with pili torti (Fig 1, B). Histology revealed perifollicular fibrosis (Fig 1, C).