| Abstrakt: |
Trichothiodystrophy (TTD) is a rare, autosomal recessive, multisystem disorder associated with defects in nucleotide excision repair. Classical features of this condition include brittle, sulphur deficient hair, photosensitivity, ichthyosis, growth retardation and developmental delay. We describe two children diagnosed with TTD. One of these patients is a compound heterozygote for mutations in the XPD gene. In addition to classical features of TTD, he has radiological evidence of axial osteosclerosis, diffuse white matter changes on his brain MRI scan and the clinical phenotype of beta-thalassaemia trait. Axial osteosclerosis has been reported in a small number of TTD patients, sometimes in association with peripheral osteoporosis. MRI changes, with central nervous system dysmyelination, have also been described in a few cases. Finally, beta-thalassaemia trait has recently been reported in association with XPD mutations. We would like to draw attention to these additional clinical features of TTD, which, until now, have not been widely recognised. In our patient both the bony changes and the neurological signs were progressive. However, until the outcome of further cases is described, the natural history of these complications remains unclear. [ABSTRACT FROM AUTHOR] |
