Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations |
| |
Authors: | Faghri S Tamura D Kraemer K H Digiovanna J J |
| |
Institution: | 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. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|