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 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 descr...

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Bibliographic Details
Published in:Case reports in dermatology 2021-09, Vol.13 (3), p.470-473
Main Authors: Al-Khenaizan, Sultan, AlSwailem, Asma, AlBalwi, Mohammed Ali
Format: Article
Language:English
Subjects:
Case reports
cobblestone appearance
Congenital diseases
Fatty acids
ichthyosis prematurity syndrome
Membranes
Mutation
neonatal asphyxia
Newborn babies
Premature birth
Single Case
Skin
solute carrier family 27 member 4
Steroids
verruciform hyperkeratotic plaques
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Summary: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.
ISSN:1662-6567
1662-6567
DOI:10.1159/000519035