Patel H P, Unis M E
J Am Acad Dermatol. 1985 Jan;12(1 Pt 2):203-6. doi: 10.1016/s0190-9622(85)80018-9.
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.
