Trichothiodystrophy: A systematic review of 112 published cases characterizes a wide spectrum of clinical manifestations
Kenneth H. Kraemer 1*, Salma Faghri 1, Deborah Tamura 1 and John J. DiGiovanna 1
1 National Institutes of Health (NCI), United States
* To whom correspondence should be addressed. E-mail: kraemerk{at}nih.gov.
Accepted 1 May 2008
 | Abstract |
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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.
