Trichothiodystrophy Associated With Urologic Malformation And Primary Hypercalciuria

Trichothiodystrophy (TTD) was identified as a hair abnormality linked to various systemic alterations, including skin, nervous system, and endocrine issues. This study reported the first case of TTD associated with a urologic malformation and primary hypercalciuria. The patient exhibited congenital ichthyosis, physical and mental retardation, and a dysmorphic facies, alongside a complex urologic malformation and primary hypercalciuria. Diagnosis was confirmed through microscopic examination of hair, revealing trichoschisis, alternating light and dark bands, a severely defective cuticle, and low sulfur content. The study explored the implications of this new association within the spectrum of TTD-related abnormalities.