Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene

Hilal Al Mandhari*, Buthaina Al-Musalhi, Nouh Al Mahroqi, Hilde T. Hilmarsen, Geir J. Braathen, Denis Khnykin

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Ichthyosis prematurity syndrome (IPS) is a rare type of syndromic autosomal recessive congenital ichthyosis (ARCI) caused by a mutation in the SLC27A4 gene that encodes the fatty acid transport protein 4 (FATP4), which is responsible for keratinocyte differentiation and skin barrier function. IPS is characterized by a triad of prematurity, perinatal respiratory asphyxia, and thick vernix caseosa-like scales. In this report, we present the clinical and molecular characterization of IPS in two Omani siblings.

Original languageEnglish
Pages (from-to)368-371
Number of pages4
JournalInternational Journal of Dermatology
Volume60
Issue number3
DOIs
Publication statusPublished - Mar 2021
Externally publishedYes

ASJC Scopus subject areas

  • Dermatology

Cite this