Trichothiodystrophy

Last Updated: 2023-07-07

Author(s): Anzengruber F., Navarini A.

ICD11: EC21.1

  • Xeroderma pigmentosum

  • Pollit 1968
  • Allen 1971
  • Tay 1971
  • Price 1980

Pollit syndrome, sulphur deficiency hair

Due to reduced sulphur content, brittle, brittle, broken hair occurs.

Rare disease.

  • AR
  • Due to a defect in the DNA excision repair system in sulphur metabolism, there is a low level of sulphur and cystine in the hair of patients with trichothiodystrophy
  • Trichothiodystrophy (TTD) is divided into TTD-A, TTD-B and TTD-D depending on 3 gene loci.
  • Association:
    • Xeroderma pigmentosum.

  • Brittle, brittle hair. In some cases, foci similar to alopecia areata are visible. As with trichorrhexis nodosa, fractures may occur in the hair shaft. Longitudinal fractures (trichoschisis) are also often visible.
  • More neuro-ectodermal changes (nail atrophy, koilonychia) may also occur.
  • Further symptoms include, dry, ichthyosis-like skin, mental retardation and increased photosensitivity, short stature, cataract.

  • Polarisation microscopy: tiger tail pattern= alternating light, then dark bands
  • Scanning electron microscopy: cuticle degeneration as well as cortical degradation
  • Determination of sulphur (<50%) and cystine (>10%) content in hair or nails

Early death.

  1. Traboulsi H, Davoli S, Catez P, Egly JM, Compe E. Dynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy. PLoS Genet. 2014 Oct 23;10(10):e1004732.
  2. Atkinson EC, Thiara D, Tamura D, DiGiovanna JJ, Kraemer KH, Hadigan C. Growth and nutrition in children with trichothiodystrophy. J Pediatr Gastroenterol Nutr. 2014 Oct;59(4):458-64.
  3. Singh A, Compe E, Le May N, Egly JM. TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription. Am J Hum Genet. 2015 Feb 5;96(2):194-207.