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J Med Genet. 2008 Oct;45(10):609-21. doi: 10.1136/jmg.2008.058743. Epub 2008 Jun 25.

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

Author information

1
DNA Repair Section, Basic Research Laboratory, Center for Clinical Research, Building 37, Room 4002, MSC 4258, National Cancer Institute, Bethesda, MD 20892, USA.

Abstract

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.

PMID:
18603627
PMCID:
PMC3459585
DOI:
10.1136/jmg.2008.058743
[Indexed for MEDLINE]
Free PMC Article

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