Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis

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