Autosomal recessive congenital ichthyosis due to novel <scp>CYP4F22</scp> mutation presenting with a collodion membrane and ocular manifestations-Reference-Cited by-同舟云学术

Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations

Published:2024-01-09 Issue: Volume: Page:
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatric Dermatology

Author:

Swink Shane M.¹^ORCID,Hurley Margaret²^ORCID,Haynes Dylan³^ORCID,Larijani Mary¹^ORCID

Affiliation:

1. Section of Dermatology Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

2. Philadelphia College of Osteopathic Medicine Philadelphia Pennsylvania USA

3. Division of Dermatology Hospital of the University of Pennsylvania Philadelphia Pennsylvania USA

Abstract

AbstractAutosomal recessive congenital ichthyoses (ARCI) are a range of genetic disorders of keratinization. The rare CYP4F22 gene mutation can present with or without collodion membrane at birth and leads to the development of mild ichthyosis phenotype. We report a case of a novel pathogenic CYP4F22 genetic mutation presenting with collodion membrane and ocular manifestations. Ocular manifestations have recently been reported in a patient with ARCI with known CYP4F22 mutation, which further supports a possible correlation between the CYP4F22 mutation and this distinct phenotype.

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.15517

Reference4 articles.

1. Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

2. Nonsyndromic types of ichthyoses - an update