A 14-year-old girl had acquired progressive kinking of the hair. Light microscopy disclosed flattening of the hair shafts with partial twists at irregular intervals. Cross-sections of paraffin-embedded hairs were elliptic or irregular in configuration. Scanning electron microscopy confirmed the presence of partial twists and demonstrated canalicular grooves that extended for variable lengths along the hair shafts. Acquired progressive kinking of the hair most resembles woolly hair in appearance and structural abnormalities.

Two sisters had an unusual constellation of findings, including telangiectases [corrected] involving the face and limbs, unclassifiable spondyloepiphyseal dysplasia, hypothyroidism, and tractional retinal detachment preceded by retinal and iris neovascularization. To our knowledge, this combination of defects has not been previously documented in the literature.