trichothiodystrophy , TTD (skrót)

Review of literature reveals extensive associated findings in trichothiodystrophy.

Known causes of collodion baby include ichthyosis vulgaris and trichothiodystrophy.

These diseases are typically inherited, and include monilethrix, pili torti and trichothiodystrophy.

Patients with trichothiodystrophy should have a thorough evaluation for other associated manifestations, including investigation of photosensitivity and DNA repair defects.

XPD helicase mutations leading to trichothiodystrophy are found throughout the protein in various locations involved in protein-protein interactions.

Biochemical analysis may reveal sulfur-deficient brittle hair (trichothiodystrophy; note that disulfide bonds determine hair waviness).

Itin P., Pittelkow M., Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias[1].

The defining feature of trichothiodystrophy is brittle hair, which is sulfur deficient and, when examined with a microscope and polarized light, demonstrates a characteristic light and dark (tiger tail) banding.

These include ataxia telangiectasia, Nijmegen breakage syndrome, some subgroups of xeroderma pigmentosum, trichothiodystrophy, Fanconi anemia, Bloom syndrome and Rothmund-Thomson syndrome.

Patients with an inherited defect in both alleles of the gene suffer from trichothiodystrophy (TTD), a disease hallmarked by brittle hair and nails and usually by developmental difficulties as well.

Most recently, Roxana developed the hypothesis of the involvement of trichothiodystrophy (TTD) genes in normal human placental development based on her novel clinical observations in TTD families.

The key finding is brittle hair with low sulfur content, but alternating dark and light bands under polarizing microscopy, trichoschisis, and absent or defective cuticle are additional important clues for the diagnosis of trichothiodystrophy.

In some cases, trichorrhexis nodosa may be caused by an underlying disorder such as argininosuccinic aciduria, Menkes' kinky hair syndrome, Netherton's syndrome, hypothyroidism, argininosuccinic lyase deficiency or trichothiodystrophy.

Weeda G, Eveno E, Donker I, et al.: A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

Their subsequent studies showed this technique can easily replace traditional microscopic evaluation in genetic hair shaft abnormalities such as Netherton syndrome, monilethrix, wooly hair syndrome, pili torti, pili annulati and trichothiodystrophy.

Broughton BC, Berneburg M, Fawcett H, et al.: Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.

TTD Tay Syndrome IBIDS Syndrome PIBIDS Syndrome None Trichothiodystrophy is a hereditary disorder characterized by brittle hair, which may be accompanied by a variety of other manifestations.