Björnstad syndrome and pili torti.
Two children with pili torti (twisted hairs) are reported, one of whom had sensorineural hearing loss. This combination of pili torti and deafness was described as a new genetic entity by Björnstad in 1965. Although light microscopy demonstrated variable numbers of twists along the shafts of hairs obtained from both patients, scanning electron microscopy in both cases revealed flattening and diagonally arranged scalloped defects on only one side of the involved hair shafts rather than true twists. Early auditory testing should be performed in children with pili torti in order to secure early treatment of possible associated hearing loss.
D002675:Child, Preschool; D005260:Female; D006197:Hair / Q000648:ultrastructure; D006201:Hair Diseases / Q000150:complications / Q000473:pathology*; D034381:Hearing Loss / Q000150:complications*; D006801:Humans; D008855:Microscopy, Electron, Scanning