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Trichothiodystrophy: A systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations
  1. Salma Faghri (salma_faghri{at}
  1. National Institutes of Health (NCI), United States
    1. Deborah Tamura (tamurad{at}
    1. National Institutes of Health (NCI), United States
      1. Kenneth H. Kraemer (kraemerk{at}
      1. National Institutes of Health (NCI), United States
        1. John J. DiGiovanna (jdigiova{at}
        1. National Institutes of Health (NCI), United States


          Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterized by brittle, sulfur-deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years (median 6 years). In addition to hair abnormalities, common features reported were developmental delay/ intellectual impairment (86%), short stature (73%), ichthyosis (65%), abnormal characteristics at birth (55%), ocular abnormalities (51%), infections (46%), photosensitivity (42%), maternal pregnancy complications (28%) and defective DNA repair (37%). There was high mortality, with 19 deaths under age 10 years (13 infection-related), which is 20-fold higher compared to the US population. The spectrum of clinical features varied from mild disease with only hair involvement to severe disease with profound developmental defects, recurrent infections and a high mortality at a young age. Abnormal characteristics at birth and pregnancy complications, unrecognized but common features of TTD, suggest a role for DNA repair genes in normal fetal development.

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