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Journal of Medical Genetics Oct 2008Trichothiodystrophy (TTD) is a rare, autosomal recessive disease, characterised by brittle, sulfur deficient hair and multisystem abnormalities. A systematic literature... (Review)
Review
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.
Topics: Adolescent; Adult; Birth Weight; Body Height; Child; Child, Preschool; DNA Repair; Developmental Disabilities; Eye Diseases; Female; Genes, Recessive; Gonadal Dysgenesis; Hair; Humans; Ichthyosis; Infant; Male; Middle Aged; Photosensitivity Disorders; Prevalence; Trichothiodystrophy Syndromes
PubMed: 18603627
DOI: 10.1136/jmg.2008.058743