Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria

In 2007, a case study was presented involving a 3.5-year-old girl diagnosed with argininosuccinicaciduria, a rare metabolic disorder that impairs the body's ability to excrete nitrogenous waste. This condition is characterized by low serum arginine levels, hepatomegaly, mental retardation, and congenital trichorrhexis nodosa—a condition where hair shafts develop nodular swellings leading to hair thinning and loss. The girl had experienced hair thinning and loss since birth, and upon examination at a dermatology clinic, her hair shafts showed the nodular swellings and frayed cortical fibers indicative of trichorrhexis nodosa, confirming the hair abnormalities as a symptom of her underlying metabolic disorder.