J Med Genet 45:609-621 doi:10.1136/jmg.2008.058743
  • Review

Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations

  1. S Faghri1,2,
  2. D Tamura1,
  3. K H Kraemer1,
  4. J J DiGiovanna1,2
  1. 1
    DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA
  2. 2
    Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island, USA
  1. K H Kraemer, DNA Repair Section, Basic Research Laboratory, Center for Clinical Research, Building 37, Room 4002, MSC 4258, National Cancer Institute, Bethesda, MD 20892, USA; kraemerk{at}
  • Received 4 March 2008
  • Revised 16 April 2008
  • Accepted 1 May 2008
  • Published Online First 25 June 2008


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.


  • Competing interests: None.