Pili torti is a congenital anomaly of the hair shaft which is flattened and twisted. The anomaly can exist as an isolated defect or in combination with other hair shaft defects and/or anomalies of other organs. Patients with Mankes syndrome, ectodermal dysplasias, and trichothio-dystrophies may have pili torti. In 1965, Björnstad reported five patients with sensorineural hearing loss and pili torti. Several other reports described similar patients. The etiology and genetics of the syndrome however have remained unclear. We report a brother and sister with pili torti and severe bilateral sensorineural hearing loss; the latter became apparent at 3 years of age. Both had almost total alopecia during preteen years. Subsequently they acquired a stubble of dry, brittle scalp hair. Axillary and pubic hair was normal. There was no evidence of hypogonadism or mental retardation.
With no one else in the family having a hearing loss or pili torti, this sibship supports autosomal recessive inheritance for Björnstad syndrome.
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Hummel, M., Kousseff, B. & Barness, L. 829 PILI TORTI AND SENSORINEURAL HFARBG LOSS - AN AUTOSOMAL, RESESSIVE DISORDER?. Pediatr Res 19, 249 (1985). https://doi.org/10.1203/00006450-198504000-00859