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CASE REPORT
Year : 2018  |  Volume : 19  |  Issue : 4  |  Page : 357-359

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


Department of DVL, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Correspondence Address:
Dr. K S Chandan
148, First Main Road, Seshadripuram, Bengaluru - 560 020, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_130_17

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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.


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