Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency-Reference-Cited by-同舟云学术

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

Published:2023-12-29 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Cordisco Adalgisa¹^ORCID,Lozza Virginia¹,Di Marco Chiara²,Cecconi Antonella²,Pisaneschi Elisa³,Berti Samantha Federica⁴,Adamo Laura¹,Lori Ilaria⁵,Belli Gilda⁵,Gambi Beatrice⁵

Affiliation:

1. Division of Prenatal Diagnosis Azienda USL Toscana Centro, San Giovanni di Dio Hospital Firenze Italy

2. Division of Medical Genetics Azienda USL Toscana Centro, Santa Maria Nuova Hospital Firenze Italy

3. Laboratory of Medical Genetics, Translational Cytogenomics Research Unit Bambino Gesù Children Hospital and Research Institute, IRCCS Roma Italy

4. Division of Pediatric Dermatology Azienda USL Toscana Centro, San Giovanni di Dio Hospital Firenze Italy

5. Division of Neonatology and Neonatal Intensive Care Unit Azienda USL Toscana Centro, San Giovanni di Dio Hospital Firenze Italy

Abstract

AbstractWe 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.

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15506

Reference9 articles.

1. Specific TGM1 Mutation Profiles in Bathing Suit and Self-Improving Collodion Ichthyoses

2. Clinical and morphological correlations for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis

3. Expanding the Genotypic Spectrum of Bathing Suit Ichthyosis

4. Self-Healing Collodion Baby