Ichthyosis Prematurity Syndrome: A Systematic Review of the Literature.

Abstract

Background/objectives: Ichthyosis prematurity syndrome (IPS) is a rare autosomal recessive congenital disorder characterized by premature birth, neonatal respiratory distress, eosinophilia, and a thick, clay-like vernix at birth. This review aims to summarize the available reported cases of IPS, including genetic etiology, clinical features, management, and prognosis.

Methods: A search was conducted using MEDLINE, Embase, Scopus, Web of Science, and CINAHL, from inception to September 3, 2024 using the search terms "IPS" or "ichthyosis congenita type IV". This systematic review was registered on the PROSPERO database (CRD42024533988). Any publication reporting a case of IPS was suitable for inclusion. Quality appraisal was performed according to CARE guidelines. Descriptive statistical analysis was performed using R v4.3.1 (R Foundation, Vienna, Austria).

Results: We identified 26 studies reporting 59 cases of IPS (PROSPERO database: CRD42024533988). While IPS was previously thought to predominantly affect Norwegian and Swedish patients, we identified cases from a broad range of ethnicities. The median duration of the cutaneous scale was 10 weeks, though patients usually have persisting atopy. Long-term prognosis is generally good, although six (10.2%) fulminant cases were identified with an estimated 6-month survival rate of 87.6% (95% confidence interval: 78.8-97.4). Mortality in these cases was attributed to respiratory and/or cardiac sequelae or sepsis. Limitations include heterogeneity in the reporting of cases and low quality of data in several aspects of data collection.

Conclusions: The cutaneous manifestations of IPS resolve over a period of weeks, and patients generally have a favorable long-term prognosis. However, rare cases of death and other complications have been reported.