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 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.

Angaben zum Objekt

• Standort: Deutsche Nationalbibliothek Frankfurt am Main
• Umfang: Online-Ressource
• Sprache: Englisch

Verweise und Beziehungen

• Erschienen in: Ichthyosis Prematurity Syndrome: A Rare Form but Easily Recognizable Ichthyosis ; volume:13 ; number:3 ; year:2021 ; pages:470-473 ; extent:4 ; Case reports in dermatology ; 13, Heft 3 (2021), 470-473 (gesamt 4)

Beteiligte, Orts- und Zeitangaben

• Urheber: Al-Khenaizan, Sultan ; AlSwailem, Asma ; AlBalwi, Mohammed Ali

Weitere Informationen

• DOI: 10.1159/000519035
• URN: urn:nbn:de:101:1-2022011300044038238366
• Rechteinformation: Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
• Letzte Aktualisierung: 15.07.20252025, 07:44 MESZ