[Skip to Navigation]
Images in Dermatology
June 21, 2023

Trichothiodystrophy

Author Affiliations
  • 1CHU Sainte-Justine, Division of Dermatology, Department of Pediatrics, Universite de Montreal, Montreal, Quebec, Canada
  • 2CHU Sainte-Justine, Department of Pathology, Universite de Montreal, Montreal, Quebec, Canada
JAMA Dermatol. 2023;159(8):877. doi:10.1001/jamadermatol.2023.0913

A male infant with intrauterine growth restriction presented for evaluation after birth at 31 weeks of gestation. Examination revealed erythematous skin that was covered with a subtle parchment-like coating without ectropion or eclabium. His hairs were frizzy, coarse, and fragile, and his nails were normal (Figure, A). The patient also had low-set ears, blepharophimosis, osteopenia, and 3 uncomplicated superficial infantile hemangiomas.

Add or change institution
×