NYMC Faculty Publications
Extremely Preterm Infant With Persistent Peeling Skin: X-Linked Ichthyosis Imitates Prematurity
Author Type(s)
Faculty
DOI
10.1515/crpm-2021-0028
Journal Title
Case Reports in Perinatal Medicine
Document Type
Article
Publication Date
8-10-2021
Department
Pediatrics
Second Department
Health Behavior and Community Health
Abstract
Objectives
X-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 presentation
In 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.
Conclusions
This report underscores the need to potentially evaluate persistent dry, flaky skin in the preterm infant, as XLI may also impact long term neurodevelopmental outcomes.
Recommended Citation
Burcescu, B., Brumberg, H. L., & Shah, S. I. (2021). Extremely Preterm Infant With Persistent Peeling Skin: X-Linked Ichthyosis Imitates Prematurity. Case Reports in Perinatal Medicine, 10 (1). https://doi.org/10.1515/crpm-2021-0028