Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis

Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in theSLC27A4 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#x3e;G,p.Met1Val) in theSLC27A4 gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.Case Rep Dermatol 2021;13:470 –473
Source: Case Reports in Dermatology - Category: Dermatology Source Type: research