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
Sitek JC, Merckoll E, Tølløfsrud PA. Osteopenia and Multiple Fractures in an Infant With Harlequin Ichthyosis. JAMA Dermatol. 2018;154(7):847–849. doi:10.1001/jamadermatol.2018.0308
Customize your JAMA Network experience by selecting one or more topics from the list below.
Create a personal account or sign in to: