No abstract available.
Trichothiodystrophy Syndromes*

Child, Preschool ; Female ; Humans ; Trichothiodystrophy Syndromes ; etiology

Trichothiodystrophy is a rare autosomal recessive disorder and it is caused by reduced levels of high-sulfur amino acids and most particularly cystine in hair shafts. The patients with trichothiodystrophy show a broad range of clinical phenotypes from only hair involvement to multisystem abnormalities. A 7-year-old girl visited the clinic with a complaint of short, sparse and slow-growing hair, which had been presented since birth. The patient's hair showed characteristic dark and light banding, which gave a "tiger tail" appearance under light microscopy, and polarization and cuticular degeneration were seen under the scanning microscopy. Evaluation of the mineral density in the patient's hair shaft showed a low level of sulfur. We herein report on a case of trichothiodystrophy with sulfur-deficiency in the hair shafts.
Amino Acids ; Child ; Cystine ; Hair ; Humans ; Light ; Microscopy ; Parturition ; Phenotype ; Sulfur ; Trichothiodystrophy Syndromes

We describe a case of trichothiodystrophy occuring as an isolated disorder. A 19-year old man has had sparse and brittle hair since birth. Physical examination and routine laboratory tests revealed an otherwise healthy man of normal intelligence. Microscopic observation of the hair under polarized light showed typical alternation of bright and dark bands(tiger-tail pattern). Scanning electron microscopy showed trichoshisis(transverse fractures through hair shaft), incomplete or absent cuticles, brush breaks weathering of the hair and trichonodosis.
Hair ; Humans ; Intelligence ; Microscopy, Electron, Scanning ; Parturition ; Physical Examination ; Trichothiodystrophy Syndromes* ; Weather ; Young Adult

Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.
Biomedical Research ; methods ; trends ; Cockayne Syndrome ; genetics ; DNA Damage ; DNA Repair ; genetics ; Genetic Predisposition to Disease ; genetics ; Humans ; Skin ; metabolism ; pathology ; radiation effects ; Trichothiodystrophy Syndromes ; genetics ; Ultraviolet Rays ; Xeroderma Pigmentosum ; genetics