Trichothiodystrophy: A rare association of brittle hair, ichthyosis, and epilepsy

Abstract

Trichothiodystrophy (TTD) is a rare autosomal recessive genetic disorder characterized by abnormal synthesis of sulfur-containing keratins and consequently hair dysplasia, associated with numerous symptoms affecting mainly organs derived from the neuroectoderm. The deficiency of cysteine and methionine explains the fragility and the regular undulation of the hair shaft of patients with TTD, appreciated as the characteristic tiger tail appearance on polarized microscopy. We report a case of TTD with a rare association of brittle hair, ichthyosis, and epilepsy, classified as Tay syndrome based on clinical features and complementary examinations.

Keywords

• Tay syndrome
• tiger tail appearance
• trichothiodystrophy