Pili torti in association with citrullinemia.
A 2 1/2-year-old white girl with citrullinemia accompanied by neurologic symptoms presented with 2- to 3-week loss of scalp hair. Examination of the scalp revealed 90% of the hairs to be broken off, leaving a stubble of hairs less than 1 mm in length. Microscopically, plucked hairs demonstrated flattening, twisting through 180 degrees on its own axis, and breakage at the point of twisting. A diagnosis of pili torti was established. Pili torti is a rare disorder that may be seen with some genetic syndromes. Its association with citrullinemia has not been reported previously.
D000505:Alopecia / Q000209:etiology; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications*; D002675:Child, Preschool; D002956:Citrulline / Q000097:blood*; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans
D002956:Citrulline