Case Report: Decreased Sulfur Concentration in Hair with Trichothiodystrophy

Trichothiodystrophy was a rare autosomal recessive disorder characterized by reduced levels of high-sulfur amino acids, particularly cystine, in hair shafts. It presented with a range of clinical phenotypes, from hair involvement to multisystem abnormalities. A case study of a 7-year-old girl with short, sparse, and slow-growing hair since birth demonstrated these characteristics. Her hair exhibited a tiger tail appearance under light microscopy and showed cuticular degeneration under scanning microscopy. Mineral density evaluation revealed low sulfur levels in her hair shafts, confirming the diagnosis of trichothiodystrophy with sulfur deficiency.