RT Journal Article SR Electronic T1 Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations JF Journal of Medical Genetics JO J Med Genet FD BMJ Publishing Group Ltd SP 609 OP 621 DO 10.1136/jmg.2008.058743 VO 45 IS 10 A1 S Faghri A1 D Tamura A1 K H Kraemer A1 J J DiGiovanna YR 2008 UL http://jmg.bmj.com/content/45/10/609.abstract AB Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature review identified 112 patients ranging from 12 weeks to 47 years of age (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 the age of 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, unrecognised but common features of TTD, suggest a role for DNA repair genes in normal fetal development.