Ichthyosis in the Neonatal Setting.

Abstract

There exists a group of rare, inherited scaly skin disorders, generally termed ichthyosis, that can be evident in the infant at the time of birth. Phenotypes for this disorder span the gamut of severity and may pose complex challenges to the healthcare provider. This article explores the 3 most common nonsyndromic forms of ichthyosis seen in neonates as follows: X-linked recessive, lamellar, and bullous congenital ichthyosiform erythroderma. Moreover, harlequin ichthyosis, a lamellar subtype, is highlighted for being the most severe, clinically problematic, and often lethal form of the disorder. A description of each of these types and their incidence is included, followed by an explanation of the genetic mutations causing them. The phenotypes and natural history are reviewed, as is expected management of the disorder throughout the patient's lifetime. Considerations for the neonatal nurse practitioner charged with caring for these patients, including specific recommendations for care in the clinical setting, are discussed. Additionally, genetic counseling and the risks of reoccurrence are explored. Given the rare nature of this disorder, further research is warranted so that healthcare providers are prepared to provide optimal care to these fragile patients.