Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.

@article{Itin2001TrichothiodystrophyUO,
  title={Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes.},
  author={Peter H Itin and Alain Sarasin and Mark R. Pittelkow},
  journal={Journal of the American Academy of Dermatology},
  year={2001},
  volume={44 6},
  pages={
          891-920; quiz 921-4
        }
}
Trichothiodystrophy (TTD) refers to a heterogeneous group of autosomal recessive disorders that share the distinctive features of short, brittle hair and an abnormally low sulfur content. Within the spectrum of the TTD syndromes are numerous interrelated neuroectodermal disorders. The TTD syndromes show defective synthesis of high-sulfur matrix proteins. Abnormalities in excision repair of ultraviolet (UV)-damaged DNA are recognized in about half of the patients. Three distinct autosomal… 
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TLDR
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TLDR
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PIBIDS syndrome (trichothiodystrophy type F) and skin cancer: an exceptional association
TLDR
The association of ichtyosiform erythroderma, hair disorder, short stature, mental retardation and photosensitivity suggested a diagnosis of so-called PIBIDS syndrome, namely TTD type F, and the clinical findings strongly suggested the TTD group for P IBIDS.
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TLDR
Two patients with some features of XP and TTD are identified, one of these, XP189MA, a 3-year-old girl with sun sensitivity, mental and physical developmental delay, has XPD mutations not previously reported, and barely detectable levels of nucleotide excision repair, highlighting the complexities of genotype-phenotype relationships in the XPD gene.
Trichothiodystrophy group A: A first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene
TLDR
The first Japanese case with a novel mutation in the GTF2H5 gene responsible for Trichothiodystrophy group A is described, suggesting that it is necessary to differentiate TTD from other photosensitive disorders, although the incidence of TTD is very low in Japan compared to that observed in Western countries.
Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships
TLDR
Since only a small proportion of the analyzed cases were mutated in TTDN1, the nonphotosensitive form of TTD is genetically heterogeneous, suggesting that T TDN1 is not essential for cell proliferation and viability.
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References

SHOWING 1-10 OF 203 REFERENCES
Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.
TLDR
Molecular analysis of the defects in ERCC2 in clinically distinct patients with XP,XP/Cockayne's syndrome, and TTD may provide insight into the molecular mechanisms of these genetically related but clinically distinct disorders.
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
TLDR
Observations, which give the first indication that TTD is associated with repair defects behaving differently in the functional test of complementation, suggest some kind of causal connection between defective excision-repair factors and clinical features diagnostic for TTD.
Trichothiodystrophy: Current Concepts
TLDR
In TTD, the major defect is in transcription initiation, whereas in XP-D, DNA repair is primarily altered, which helps clarify why TTD patients with defects in the same gene(s) as those with XP do not have increased skin cancers.
Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.
TLDR
Two-dimensional electrophoresis on the two protein fractions of the abnormal hair confirmed that the abnormality is caused by decreased synthesis of high-sulfur matrix proteins, which may account for the various disease features in these persons.
A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
Trichothiodystrophy (TTD) is a rare, autosomal recessive disorder characterized by sulfur-deficient brittle hair and nails, mental retardation, impaired sexual development, and ichthyosis.
Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.
TLDR
A detailed molecular and cellular study of the effects of UV light on cells cultured from three further TTD patients who did not exhibit photosensitivity is found, which poses a number of questions about the relationship between the molecular defect in DNA repair and the clinical symptoms of xeroderma pigmentosum and TTD.
Prenatal diagnosis in a subset of trichothiodystrophy patients defective in DNA repair
TLDR
M measurement of DNA repair by unscheduled DNA synthesis provided unambiguous evidence of defective DNA repair in the fetal cells, and is therefore a suitable prenatal diagnostic test for those TTD families in which a DNA repair defect has been identified.
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
TLDR
Nucleotide-sequence analysis of the ERCC2 cDNA from three TTD cell strains revealed mutations within the region from amino acid 713-730 and within previously identified helicase functional domains that can be correlated with the various clinical presentations and DNA repair characteristics of the cell strains.
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