title: Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
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.
authors.affiliation: DNA Repair Section, Basic Research Laboratory, Center for Clinical Research, Building 37, Room 4002, MSC 4258, National Cancer Institute, Bethesda, MD 20892, USA.
authors.forename: S
authors.initials: S
authors.lastname: Faghri
authors.forename: D
authors.initials: D
authors.lastname: Tamura
authors.forename: K H
authors.initials: KH
authors.lastname: Kraemer
authors.forename: J J
authors.initials: JJ
authors.lastname: Digiovanna
mesh_terms: D000293:Adolescent; D000328:Adult; D001724:Birth Weight; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D004260:DNA Repair / Q000502:physiology; D002658:Developmental Disabilities / Q000453:epidemiology; D005128:Eye Diseases / Q000453:epidemiology / Q000382:microbiology; D005260:Female; D005808:Genes, Recessive; D006059:Gonadal Dysgenesis / Q000453:epidemiology; D006197:Hair / Q000002:abnormalities* / Q000737:chemistry; D006801:Humans; D007057:Ichthyosis / Q000453:epidemiology; D007223:Infant; D008297:Male; D008875:Middle Aged; D010787:Photosensitivity Disorders / Q000453:epidemiology; D015995:Prevalence; D054463:Trichothiodystrophy Syndromes / Q000235:genetics / Q000382:microbiology / Q000473:pathology*