TLDR Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
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.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
126 citations,
January 1987 in “Journal of The American Academy of Dermatology” The document concludes that understanding hair structure is key to diagnosing hair abnormalities and recommends gentle hair care for management.
30 citations,
August 1983 in “Pediatric Clinics of North America” Most hair loss in children is caused by a few common conditions, and it's important to diagnose these properly and support the child's mental health.
86 citations,
October 2013 in “Dermatologic Clinics” Trichoscopy is a useful non-invasive method for diagnosing different hair loss conditions.
5 citations,
October 1984 in “The BMJ” Up to 50% of scalp hair can be lost before it appears thin, and treatment is only needed for hair loss caused by diseases or deficiencies.
68 citations,
August 2012 in “Journal of the American Academy of Dermatology” Dermatoscopy is a useful tool for diagnosing hair disorders and can help choose samples for more detailed analysis.
