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Case Reports
. 2024 May-Jun;41(3):512-514.
doi: 10.1111/pde.15506. Epub 2023 Dec 29.

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

Adalgisa Cordisco  1 , Virginia Lozza  1 , Chiara Di Marco  2 , Antonella Cecconi  2 , Elisa Pisaneschi  3 , Samantha Federica Berti  4 , Laura Adamo  1 , Ilaria Lori  5 , Gilda Belli  5 , Beatrice Gambi  5
Affiliations
Case Reports

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

Adalgisa Cordisco et al. Pediatr Dermatol. 2024 May-Jun.

Abstract

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.

Keywords: TGM1 mutation; autosomal recessive congenital ichthyosis; collodion membrane; fetal ectropion; prenatal diagnosis.

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References

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