부산대학교 도서관

ObjectivesX-linked ichthyosis (XLI) is a genetic disorder caused by a deficiency in steroid sulfatase, an enzyme which catalyzes a reaction in estrone synthesis. The disorder primarily manifests as dry, scaly skin which may be difficult to diagnose in extremely preterm infants, as the dermatological features may be falsely attributed to a normal variant of skin for this population.Case presentationIn this case report, we describe a male with XLI, born at 24 weeks gestation, who had persistent dry, flaky and hyperpigmented skin. This case is notable for the age of diagnosis in an extremely premature infant; day of life 105. In addition, this infant experienced out of proportion bronchopulmonary symptoms that we postulate may be linked to the steroid sulfatase deficiency, as estrogen is a mediator of surfactant production.ConclusionsThis report underscores the need to potentially evaluate persistent dry, flaky skin in the preterm infant, as XLI may also impact long term neurodevelopmental outcomes.