Last Updated: 2019-08-26
- Pollit 1968
- Allen 1971
- Tay 1971
- Price 1980
Pollit syndrome, sulfur deficient hair
Due to reduced sulphur content, brittle, brittle, broken hair occurs.
- A defect of the DNA excision repair system in the sulfur metabolism results in a low content of sulfur and cystine in hair in patients with trichothiodystrophy.
- Trichothiodystrophy (TTD) is divided into TTD-A, TTD-B and TTD-D depending on the 3 genloci.
- Xeroderma pigmentosum.
- Brittle, brittle hair. In part, alopecia areata-like herds are visible. As with Trichorrhexis nodosa, hair shaft fractures may occur. Longitudinal fractures (trichoschisis) are also often visible.
- Further neuro-ectodermal changes (nail atrophy, koilonychia) may also occur.
- Other symptoms include dry, ichthyose-like skin, mental retardation and increased photosensitivity, short stature, cataract.
- Polarizing microscopic: tiger tail pattern = alternating bright, then dark bands
- Scanning electron microscopy: cuticle degeneration and cortical degradation
- Determination of sulfur (<50%) and cystine content (>10%) in hair or nails
- 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.
- 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.
- 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.