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

S Faghri, D Tamura, K H Kraemer, J J Digiovanna

Journal: Journal of medical genetics 2008;45(10):609-21

PMID: 18603627

Free Full Text on PubMed Central View on PubMed

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.

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

DOI: 10.1136/jmg.2008.058743

Link outs

Free resources

Full Text Sources:

Medical:

https://medlineplus.gov/genetics/gene/gtf2h5

Molecular Biology Databases:

https://www.malacards.org/card/trichothiodystrophy...

Research Materials:

https://antibodies.cancer.gov/detail/CPTC-ERCC2-1

Subscription / membership required

Full Text Sources:

MeSH Terms: 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