Trichothiodystrophy comprises a heterogeneous group of autosomal recessive 
entities. This fact gives rise to different interrelated neuroectodermal 
disorders. From a structural point of view these features are the result of the 
low tissue sulfur content. We report a case of trichothiodystrophy initially 
classified as Tay syndrome that based on clinical features, complementary exams 
as well as on the disease evolution was labelled as PIBIDS syndrome.