Trichothiodystrophy

JAMA Dermatol. 2023 Aug 1;159(8):877. doi: 10.1001/jamadermatol.2023.0913.
No abstract available

Plain language summary

This case report describes an infant with frizzy, coarse, and fragile hair and low-set ears, blepharophimosis, and osteopenia.

MeSH terms

  • Hair
  • Hair Diseases* / diagnosis
  • Humans
  • Sulfur
  • Trichothiodystrophy Syndromes* / diagnosis
  • Trichothiodystrophy Syndromes* / genetics

Substances

  • Sulfur