Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes

In 1971, Chong Hai Tay identified a new recessive disorder in three Chinese children characterized by ichthyotic erythroderma, mental and growth retardation, progeria-like facies, and brittle hair with unique transverse fractures. This condition, later termed "trichothiodystrophy," was linked to a deficiency in sulfur-containing amino acids in the hair. American researchers found similarities between Tay syndrome and the BIDS syndrome, leading to the introduction of the acronym IBIDS. Despite being previously described, Tay's work established it as a distinct clinicogenetic entity, now appropriately referred to as "Tay syndrome."