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

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.

• Authors: Hilal Al Mandhari, Buthaina Al-Musalhi, Nouh Al Mahroqi, Hilde T Hilmarsen, Geir J Braathen, Denis Khnykin
• Journal: International journal of dermatology (Int J Dermatol) Vol. 60 Issue 3 Pg. 368-371 (Mar 2021) ISSN: 1365-4632 [Electronic] England
• PMID: 33319372 (Publication Type: Case Reports)
• Copyright: © 2020 the International Society of Dermatology.

Chemical References

• Fatty Acid Transport Proteins
• SLC27A4 protein, human

Topics

• Fatty Acid Transport Proteins (genetics)
• Female
• Humans
• Ichthyosis (genetics)
• Infant, Premature, Diseases
• Mutation
• Pregnancy
• Siblings