title: [Trichothiodystrophy: PIBIDS syndrome].
abstract: 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.
authors.affiliation: Servicio de Dermatología, Hospital Universitario Reina Sofía, Córdoba, España. JIMPUYA@terra.es
authors.forename: R
authors.initials: R
authors.lastname: Jiménez-Puya
authors.forename: J C
authors.initials: JC
authors.lastname: Moreno-Giménez
authors.forename: F
authors.initials: F
authors.lastname: Camacho-Martínez
authors.forename: J
authors.initials: J
authors.lastname: Ferrando-Barbera
authors.forename: R
authors.initials: R
authors.lastname: Grimalt
mesh_terms: D019588:Aging, Premature / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D004260:DNA Repair / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D006197:Hair / Q000737:chemistry; D006201:Hair Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D007057:Ichthyosis / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007223:Infant; D007911:Lentigo / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D020752:Neurocutaneous Syndromes / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D013455:Sulfur / Q000032:analysis / Q000172:deficiency*
chemical_list: D013455:Sulfur