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[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.
AuthorsR Jiménez-Puya, J C Moreno-Giménez, F Camacho-Martínez, J Ferrando-Barbera, R Grimalt
JournalActas dermo-sifiliograficas (Actas Dermosifiliogr) Vol. 98 Issue 3 Pg. 183-7 (Apr 2007) ISSN: 0001-7310 [Print] Spain
Vernacular TitleTricotiodistrofia: síndrome PIBIDS.
PMID17504703 (Publication Type: Case Reports, English Abstract, Journal Article)
Chemical References
  • Sulfur
Topics
  • Aging, Premature (genetics, metabolism, pathology)
  • DNA Repair (genetics)
  • Female
  • Genes, Recessive
  • Growth Disorders (genetics, metabolism, pathology)
  • Hair (chemistry)
  • Hair Diseases (genetics, metabolism, pathology)
  • Humans
  • Ichthyosis (genetics, metabolism, pathology)
  • Infant
  • Lentigo (genetics, metabolism, pathology)
  • Neurocutaneous Syndromes (genetics, metabolism, pathology)
  • Phenotype
  • Photosensitivity Disorders (genetics, metabolism, pathology)
  • Sulfur (analysis, deficiency)

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