Trichothiodystrophy and Fragile Hair: The Distinction Between Diagnostic Signs and Diagnostic Labels in Childhood Hair Disease

The study investigated the relationship between fragile hair and trichothiodystrophy (TTD) by analyzing 25 patients with hair fragility over 10 years. The research found that while 19 patients exhibited hair damage, only 3 cases matched a diagnosis of TTD. The study concluded that fragile hair in childhood was rarely associated with TTD, and the presence of the tiger-tail pattern was sensitive but not specific to TTD. The authors suggested that the term TTD should be used to describe sulphur-deficient hair rather than as a broad diagnostic label for a multisystem disorder.