Pili torti in association with citrullinemia

January 1985 in “ Journal of the American Academy of Dermatology ”

Harikrishna P. Patel, Mark E. Unis

TLDR A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.

A 2.5-year-old white girl with citrullinemia and neurologic symptoms experienced a 2- to 3-week period of scalp hair loss, with 90% of her hairs broken off to less than 1 mm in length. Microscopic examination revealed the hairs were flattened, twisted 180 degrees, and broken at the twist points, leading to a diagnosis of pili torti. This rare hair disorder had not been previously associated with citrullinemia.

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