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

Autosomal 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 geneti...

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Veröffentlicht in:	Pediatric dermatology 2024-05, Vol.41 (3), p.546-548
Hauptverfasser:	Swink, Shane M, Hurley, Margaret, Haynes, Dylan, Larijani, Mary
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Sprache:	eng
Schlagworte:	Case reports Genetic disorders Genotype & phenotype Ichthyosis Keratinization Mutation Pediatrics Phenotypes Point mutation Skin diseases
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container_title	Pediatric dermatology
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creator	Swink, Shane M Hurley, Margaret Haynes, Dylan Larijani, Mary
description	Autosomal 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.
doi_str_mv	10.1111/pde.15517
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source	Wiley Online Library - AutoHoldings Journals
subjects	Case reports Genetic disorders Genotype & phenotype Ichthyosis Keratinization Mutation Pediatrics Phenotypes Point mutation Skin diseases
title	Autosomal recessive congenital ichthyosis due to novel CYP4F22 mutation presenting with a collodion membrane and ocular manifestations
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