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.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
