Premium
Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene
Author(s) -
Al Mandhari Hilal,
AlMusalhi Buthaina,
Al Mahroqi Nouh,
Hilmarsen Hilde T.,
Braathen Geir J.,
Khnykin Denis
Publication year - 2021
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.15367
Subject(s) - congenital ichthyosis , medicine , ichthyosis , lamellar ichthyosis , mutation , genetics , dermatology , pediatrics , gene , biology
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.