Further Insights in Trichothiodystrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review

The study on trichothiodystrophy (TTD) examined 20 cases and provided insights into this rare autosomal recessive condition characterized by brittle hair due to sulfur deficiency. It revealed a wide range of clinical manifestations, including neurologic abnormalities, blindness, ichthyosis, and gonadal malformations. Hair abnormalities, such as trichoschisis and sulfur deficiency, were present in all patients, with sulfur deficiency being discontinuous and correlating with hair fragility. The research emphasized the need for a comprehensive multisystem evaluation for TTD patients due to the condition's varied phenotype.