Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

Sultan Al-Khenaizan; Asma AlSwailem; Mohammed Ali AlBalwi

doi:10.1159/000519035

Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

Case Rep Dermatol. 2021 Sep 21;13(3):470-473. doi: 10.1159/000519035. eCollection 2021 Sep-Dec.

Authors

Sultan Al-Khenaizan¹, Asma AlSwailem², Mohammed Ali AlBalwi³

Affiliations

¹ Division of Dermatology, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.
² Division of Dermatology, King Saud Medical City, Riyadh, Saudi Arabia.
³ Department of Pathology and Laboratory Medicine, King Saud Bin Abdulaziz University for Health Sciences, King Abdullah International Medical Research Center, King Abdulaziz Medical City, Riyadh, Saudi Arabia.

Abstract

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the SLC27A4 gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (c.1 A> G, p.Met1Val) in the SLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.

Keywords: Cobblestone appearance; Ichthyosis prematurity syndrome; Neonatal asphyxia; Premature birth; Solute carrier family 27 member 4; Verruciform hyperkeratotic plaques.

Publication types

Case Reports