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July 2018

Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis

Author Affiliations
  • 1Department of Dermatology, Oslo University Hospital, Oslo, Norway
  • 2Center for Rare Disorders, Oslo University Hospital, Oslo, Norway
  • 3Department of Radiology, Oslo University Hospital, Oslo, Norway
  • 4Department of Pediatrics, Oslo University Hospital, Oslo, Norway
JAMA Dermatol. 2018;154(7):847-849. doi:10.1001/jamadermatol.2018.0308

Harlequin ichthyosis (HI) is a rare form of autosomal-recessive congenital ichthyosis associated with significant perinatal morbidity and mortality. At birth, platelike scales separated by rhagades create the characteristic diamond-shaped skin manifestations. Advances in neonatal intensive care and, presumably, early administration of oral retinoid therapy has markedly improved survival.1