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

International journal of dermatology 2021 Mar

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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. © 2020 the International Society of Dermatology.

Citation

Hilal Al Mandhari, Buthaina Al-Musalhi, Nouh Al Mahroqi, Hilde T Hilmarsen, Geir J Braathen, Denis Khnykin. Ichthyosis prematurity syndrome in two Omani siblings, caused by homozygous c.1A > G mutation in the FATP4 gene. International journal of dermatology. 2021 Mar;60(3):368-371