Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.

We describe a case of collodion baby diagnosed prenatally by ultrasound. Classic signs (ectropion, flattened nose, and eclabion) were detected on routine ultrasound at 21 weeks of gestation. At birth, the presence of collodion membrane was confirmed and subsequently, the diagnosis of an autosomal recessive congenital ichthyosis due to compound heterozygosity of the TGM1 gene was made. © 2023 Wiley Periodicals LLC.

Citation

Adalgisa Cordisco, Virginia Lozza, Chiara Di Marco, Antonella Cecconi, Elisa Pisaneschi, Samantha Federica Berti, Laura Adamo, Ilaria Lori, Gilda Belli, Beatrice Gambi. Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency. Pediatric dermatology. 2023 Dec 29

PMID: 38156659

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